Variant information


Systematic Name c.916C>T
Protein name p.Arg306Cys
Mutation type Missense
Domain TRD
Pathogenicity Mutation associated with disease

Proband information


Source of DNA
Detection
Extent
Number of chromosomes checked
Carrier status checked
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial
Phenotype-class Rett syndrome-Not certain
Reference MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 25 :Bunyan, D.::
2 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 73 MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105
3 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 74 MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105
4 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 75 MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105
5 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 76 MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105
6 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 77 MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105
7 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 78 MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105
8 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 121 Rett syndrome: analysis of MeCP2 and clinical characterization of 31 patients:Huppke, P., Laccone, F., Krämer, N., Engel, W., Hanefeld, F.:Human Molecular Genetics: 10814718
9 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 133 Mutational analysis of the Mecp2 gene in Japanese patients with Rett syndrome:Amano, Kenji, Nomura, Yoshiko, Segawa, Masaya, Yamakawa, Kazuhiro:Journal of Human Genetics: 10944854
10 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 136 Mutational analysis of the Mecp2 gene in Japanese patients with Rett syndrome:Amano, Kenji, Nomura, Yoshiko, Segawa, Masaya, Yamakawa, Kazuhiro:Journal of Human Genetics: 10944854
11 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Preserved speech 168 Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome:Obata, K., Matsuishi, T., Yamashita, Y., Fukuda, T., Kuwajima, K., Horiuchi, I., Nagamitsu, S., Iwanaga, R., Kimura, A., Omori, I., Endo, S., Mori, K., Kondo, I.:Journal of Medical Genetics: 10991688
12 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Classical 169 Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome:Obata, K., Matsuishi, T., Yamashita, Y., Fukuda, T., Kuwajima, K., Horiuchi, I., Nagamitsu, S., Iwanaga, R., Kimura, A., Omori, I., Endo, S., Mori, K., Kondo, I.:Journal of Medical Genetics: 10991688
13 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Classical 170 Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome:Obata, K., Matsuishi, T., Yamashita, Y., Fukuda, T., Kuwajima, K., Horiuchi, I., Nagamitsu, S., Iwanaga, R., Kimura, A., Omori, I., Endo, S., Mori, K., Kondo, I.:Journal of Medical Genetics: 10991688
14 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Classical 171 Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome:Obata, K., Matsuishi, T., Yamashita, Y., Fukuda, T., Kuwajima, K., Horiuchi, I., Nagamitsu, S., Iwanaga, R., Kimura, A., Omori, I., Endo, S., Mori, K., Kondo, I.:Journal of Medical Genetics: 10991688
15 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Classical 172 Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome:Obata, K., Matsuishi, T., Yamashita, Y., Fukuda, T., Kuwajima, K., Horiuchi, I., Nagamitsu, S., Iwanaga, R., Kimura, A., Omori, I., Endo, S., Mori, K., Kondo, I.:Journal of Medical Genetics: 10991688
16 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 194 Mutations in the MECP2 gene in a cohort of girls with Rett syndrome:Hampson, Kim, Woods, C. Geoffrey, Latif, Farida, Webb, Tessa:Journal of Medical Genetics: 10991689
17 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 234 A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients:Bourdon, Violaine, Philippe, Christophe, Labrune, Orianne, Amsallem, Daniel, Arnould, Cécile, Jonveaux, Philippe:Human genetics: 11214906
18 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 235 A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients:Bourdon, Violaine, Philippe, Christophe, Labrune, Orianne, Amsallem, Daniel, Arnould, Cécile, Jonveaux, Philippe:Human genetics: 11214906
19 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 269 MECP2 mutations in sporadic cases of rett syndrome are almost exclusively of paternal origin:Trappe, R., Laccone, F., Cobilanschi, J., Meins, M., Huppke, P., Hanefeld, F., Engel, W.:American Journal of Human Genetics: 11309679
20 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Classical 319 MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features:Auranen, M., Vanhala, MD, Vosman, M., Levander, M., Varilo, T., Hietala, M., Riikonen, R., Peltonen, L., Järvelä, I.:Neurology: 11245712
21 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Classical 320 MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features:Auranen, M., Vanhala, MD, Vosman, M., Levander, M., Varilo, T., Hietala, M., Riikonen, R., Peltonen, L., Järvelä, I.:Neurology: 11245712
22 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Classical 321 MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features:Auranen, M., Vanhala, MD, Vosman, M., Levander, M., Varilo, T., Hietala, M., Riikonen, R., Peltonen, L., Järvelä, I.:Neurology: 11245712
23 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Classical 322 MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features:Auranen, M., Vanhala, MD, Vosman, M., Levander, M., Varilo, T., Hietala, M., Riikonen, R., Peltonen, L., Järvelä, I.:Neurology: 11245712
24 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Classical 323 MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features:Auranen, M., Vanhala, MD, Vosman, M., Levander, M., Varilo, T., Hietala, M., Riikonen, R., Peltonen, L., Järvelä, I.:Neurology: 11245712
25 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Classical 324 MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features:Auranen, M., Vanhala, MD, Vosman, M., Levander, M., Varilo, T., Hietala, M., Riikonen, R., Peltonen, L., Järvelä, I.:Neurology: 11245712
26 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Classical 385 :::
27 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Atypical 409 :::
28 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Classical 452 :::
29 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Atypical 459 :::
30 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Not Known 469 :::
31 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Classical 932 MECP2 mutations account for most cases of typical forms of Rett syndrome:Bienvenu, Thierry, Carrié, Alain, de Roux, Nicolas, Vinet, Marie-Claude, Jonveaux, Philippe, Couvert, Philippe, Villard, Laurent, Arzimanoglou, Alexis, Beldjord, Cherif, Fontes, Michel, Tardieu, Marc and Chelly, Jamel:Human Molecular Genetics: 10814719
32 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Classical 927 MECP2 mutations account for most cases of typical forms of Rett syndrome:Bienvenu, Thierry, Carrié, Alain, de Roux, Nicolas, Vinet, Marie-Claude, Jonveaux, Philippe, Couvert, Philippe, Villard, Laurent, Arzimanoglou, Alexis, Beldjord, Cherif, Fontes, Michel, Tardieu, Marc and Chelly, Jamel:Human Molecular Genetics: 10814719
33 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Unknown Rett syndrome-Classical 913 :::
34 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Unknown Rett syndrome-Classical 911 :::
35 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Unknown Rett syndrome-Classical 912 :::
36 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 862 Mutation screening in Rett syndrome patients:Xiang, Fengqing, Buervenich, Silvia, Nicolao, Piero, Bailey, Mark E. S., Zhang, Zhiping, Anvret, Maria:Journal of Medical Genetics: 10745042
37 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 861 Mutation screening in Rett syndrome patients:Xiang, Fengqing, Buervenich, Silvia, Nicolao, Piero, Bailey, Mark E. S., Zhang, Zhiping, Anvret, Maria:Journal of Medical Genetics: 10745042
38 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 860 Mutation screening in Rett syndrome patients:Xiang, Fengqing, Buervenich, Silvia, Nicolao, Piero, Bailey, Mark E. S., Zhang, Zhiping, Anvret, Maria:Journal of Medical Genetics: 10745042
39 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 859 Mutation screening in Rett syndrome patients:Xiang, Fengqing, Buervenich, Silvia, Nicolao, Piero, Bailey, Mark E. S., Zhang, Zhiping, Anvret, Maria:Journal of Medical Genetics: 10745042
40 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 858 Mutation screening in Rett syndrome patients:Xiang, Fengqing, Buervenich, Silvia, Nicolao, Piero, Bailey, Mark E. S., Zhang, Zhiping, Anvret, Maria:Journal of Medical Genetics: 10745042
41 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 857 Mutation screening in Rett syndrome patients:Xiang, Fengqing, Buervenich, Silvia, Nicolao, Piero, Bailey, Mark E. S., Zhang, Zhiping, Anvret, Maria:Journal of Medical Genetics: 10745042
42 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 856 Mutation screening in Rett syndrome patients:Xiang, Fengqing, Buervenich, Silvia, Nicolao, Piero, Bailey, Mark E. S., Zhang, Zhiping, Anvret, Maria:Journal of Medical Genetics: 10745042
43 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 1054 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
44 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 1055 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
45 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 1056 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
46 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 1057 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
47 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 1058 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
48 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 1059 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
49 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 1060 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
50 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 1061 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
51 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Preserved speech 1178 Preserved speech variants of the Rett syndrome: molecular and clinical analysis:Zappella, Michele, Meloni, Ilaria, Longo, Ilaria, Hayek, Giuseppe and Renieri, Alessandra:American Journal of Human Genetics: 11746022
52 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Classical 1209 Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome:Chae, Jong Hee, Hwang, Yong, Seung and Kim, Ki Joong:Journal of Child Neurology: 11913567
53 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Classical 1231 MECP2 mutation screening in Swedish classical Rett syndrome females:Erlandson, A., Hallberg, B., Hagberg, B., Wahlström, and Martinsson, T.:European Child and Adolescent Psychiatry: 11469283
54 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Classical 1232 MECP2 mutation screening in Swedish classical Rett syndrome females:Erlandson, A., Hallberg, B., Hagberg, B., Wahlström, and Martinsson, T.:European Child and Adolescent Psychiatry: 11469283
55 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1304 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840
56 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1305 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840
57 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1306 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840
58 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Classical 1401 DHPLC analysis of the MECP2 gene in Italian Rett patients:Nicolao, Piero, Carella, Massimo, Giometto, Bruno, Tavolato, Bruno, Cattin, Riccardo, Giovannucci-Uzielli, Maria Luisa, Vacca, Marcella, Regione, Floriana Della, Piva, Stefania, Bortoluzzi, Stefania, Gasparini, Paolo:Human mutation: 11462237
59 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Classical 1402 DHPLC analysis of the MECP2 gene in Italian Rett patients:Nicolao, Piero, Carella, Massimo, Giometto, Bruno, Tavolato, Bruno, Cattin, Riccardo, Giovannucci-Uzielli, Maria Luisa, Vacca, Marcella, Regione, Floriana Della, Piva, Stefania, Bortoluzzi, Stefania, Gasparini, Paolo:Human mutation: 11462237
60 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Classical 1454 Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females:Vacca, Marcella, Filippini, Francesco, Budillon, Alberta, Rossi, Valeria, Mercadante, Grazia, Manzati, Alberta, Gualandi, Francesca, Bigoni, Stefania, Trabanelli, Cecilia, Pini, Giorgio, Calzolari, Elisa, Ferlini, Alessandra, Meloni, Ilaria, Hayek, Giuseppe, Zappella, Michele, Renieri, Alessandra, D'Urso, Michele, D'Esposito, Maurizio, MacDonald, Fiona, Kerr, Alison, Dhanjal, Seema, Hultén, Maj:Journal of Molecular Medicine: 11269512
61 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 1483 Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots:Wan, Mimi, Lee, Stephen Sung Jae, Zhang, Xianyu, Houwink-Manville, Isa, Song, Hae-Ri, Amir, Ruthie E., Budden, Sarojini, Naidu, SakkuBai, Pereira, Jose Luiz P., Lo, Ivan F. M., Zoghbi, Huda Y., Schanen, N. Carolyn and Francke, Uta:American Journal of Human Genetics: 10577905
62 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Unknown Rett syndrome-atypical 1520 Molecular analysis of Japanese patients with Rett syndrome: identification of five novel mutations and genotype-phenotype correlation:Yamada, Yasukazu, Miura, Kiyokuni, Kumagai, Toshiyuki, Hayakawa, Chiemi, Miyazaki, Shuji, Matsumoto, Akiko, Kurosawa, Kenji, Nomura, Noriko, Taniguchi, Hiroko, Sonta, Shin-ichi, Yamanaka, Tsutomu, and Wakamatsu, Nobuaki:Human mutation: 11524741
63 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-classical 1554 :::
64 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Not Rett synd. 1555 MECP2 mutation screening in Brazilian patients with Angelman syndrome-like phenotype:Fridman C, Varela MC, Koiffmann CP:American Journal of Human Genetics:
65 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-atypical 1558 :::
66 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 1609 :Bunyan, D.::
67 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Not Known 1706 :Friez, Michael::
68 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Not Known 1748 :Friez, Michael::
69 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Not Known 1765 :Friez, Michael::
70 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Not Known 1773 :Friez, Michael::
71 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Not Known 1778 :Friez, Michael::
72 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Not Known 1789 :Friez, Michael::
73 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Not Known 1807 :Friez, Michael::
74 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 1832 :Bunyan, D.::
75 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 1833 :Bunyan, D.::
76 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 1905 :::
77 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-atypical 1959 Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome:Schanen, C., Houwink, EJ., Dorrani, N., Lane, J., Everett, R., Feng, A., Cantor, RM. and Percy, A:American Journal of Medical Genetics: 15057977
78 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-atypical 1964 Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome:Schanen, C., Houwink, EJ., Dorrani, N., Lane, J., Everett, R., Feng, A., Cantor, RM. and Percy, A:American Journal of Medical Genetics: 15057977
79 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Not Known 2011 :::
80 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Not Known 2032 :::
81 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Not Known 2035 :::
82 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Not Known 2040 :::
83 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Not Known 2054 :::
84 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Classical 2320 :Cardiff, UK::
85 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 2322 :Cardiff, UK::
86 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Classical 2323 :Cardiff, UK::
87 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 2324 :Cardiff, UK::
88 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Atypical 2325 :Cardiff, UK::
89 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Classical 2326 :Cardiff, UK::
90 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 2327 :Cardiff, UK::
91 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 2329 :Cardiff, UK::
92 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Atypical 2330 :Cardiff, UK::
93 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Classical 2400 :::
94 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Classical 2409 :::
95 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Preserved speech 2413 :::
96 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Classical 2432 Rett syndrome in Spain: mutation analysis and clinical correlations:Monros, E., Armstrong J., Aibar, E., Poo, P., Canós, I., Pineda, M.:Brain and Development: 11738885
97 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Classical 2437 Rett syndrome in Spain: mutation analysis and clinical correlations:Monros, E., Armstrong J., Aibar, E., Poo, P., Canós, I., Pineda, M.:Brain and Development: 11738885
98 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Rett syndrome-Classical 2467 :::
99 c.916C>T p.Arg306Cys Missense TRD Mutation associated with disease Female Not Known 2488 Very mild cases of Rett syndrome with skewed X inactivation:Peter Huppke, Esther M Maier, Andreas Warnke, Cornelia Brendel, Franco Laccone and Jutta Gärtner:Journal of Medical Genetics: 16690727
100 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-Classical 2616 Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578
101 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-Classical 2617 Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578
102 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-Classical 2618 Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578
103 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-Classical 2619 Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578
104 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-Classical 2620 Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578
105 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 2648 Coinheritance of mutated SMN1 and MECP2 genes in a child with phenotypic features of spinal muscular atrophy (SMA) type II and Rett syndrome:Voutoufianakis, S., Psoni, S., Vorgia, P., Tsekoura, F., Kekou, K., Traeger-Synodinos, J., Kitsiou, S., Kanavakis, E., Fryssira, H.:European Journal of Paediatric Neurology: 17276711
106 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 2815 Diagnostic mutational analysis of MECP2 in Korean patients with Rett syndrome:Kim, I.-J., Kim, Y.-J., Son, B.-H., Nam, S.-O., Kang, H.-C., Kim, H.-D., Yoo, M.-A., Choi, O.-H., Kim, C.-M.:Experimental and Molecular Medicine: 16672765
107 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 2816 Diagnostic mutational analysis of MECP2 in Korean patients with Rett syndrome:Kim, I.-J., Kim, Y.-J., Son, B.-H., Nam, S.-O., Kang, H.-C., Kim, H.-D., Yoo, M.-A., Choi, O.-H., Kim, C.-M.:Experimental and Molecular Medicine: 16672765
108 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 2852 Mutation analysis of the MECP2 gene in patients with Rett syndrome:Conforti, F.L., Mazzei, R., Magariello, A., Patitucci, A., Gabriele, A.L., Muglia, M., Quattrone, A., Fiumara, A., Barone, R., Pavone, L., Nisticò, R., Mangone, L.:American Journal of Medical Genetics: 12567420
109 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 2853 Mutation analysis of the MECP2 gene in patients with Rett syndrome:Conforti, F.L., Mazzei, R., Magariello, A., Patitucci, A., Gabriele, A.L., Muglia, M., Quattrone, A., Fiumara, A., Barone, R., Pavone, L., Nisticò, R., Mangone, L.:American Journal of Medical Genetics: 12567420
110 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-forme fruste 2875 Rett syndrome in adolescent and adult females:Smeets, E., Schollen, E., Moog, U., Matthijs, G., Herbergs, J., Smeets, H., Curfs, L., Schrander-Stumpel, C., Fryns, J.P.:American Journal of Medical Genetic: 12966523
111 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 2876 Rett syndrome in adolescent and adult females:Smeets, E., Schollen, E., Moog, U., Matthijs, G., Herbergs, J., Smeets, H., Curfs, L., Schrander-Stumpel, C., Fryns, J.P.:American Journal of Medical Genetic: 12966523
112 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 2877 Rett syndrome in adolescent and adult females:Smeets, E., Schollen, E., Moog, U., Matthijs, G., Herbergs, J., Smeets, H., Curfs, L., Schrander-Stumpel, C., Fryns, J.P.:American Journal of Medical Genetic: 12966523
113 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 2878 Rett syndrome in adolescent and adult females:Smeets, E., Schollen, E., Moog, U., Matthijs, G., Herbergs, J., Smeets, H., Curfs, L., Schrander-Stumpel, C., Fryns, J.P.:American Journal of Medical Genetic: 12966523
114 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 2902 MECP2 mutations in Serbian Rett syndrome patients:Djarmati, A., Dobricic, V., Kecmanovic, M., Marsh, P., Jancic-Stefanovic, J., Klein, C., Djuric, M., Romac, S.:Acta Neurol Scand: 17986102
115 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 2903 MECP2 mutations in Serbian Rett syndrome patients:Djarmati, A., Dobricic, V., Kecmanovic, M., Marsh, P., Jancic-Stefanovic, J., Klein, C., Djuric, M., Romac, S.:Acta Neurol Scand: 17986102
116 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 2945 Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome; a cohort of 171 cases:Kammoun, F., de Roux, N, Boespflug-Tanguy, O., Vallée, L, seng, R., Tardieu, M., Landrieu, P.:J Med Genet: 15173251
117 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 2946 Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome; a cohort of 171 cases:Kammoun, F., de Roux, N, Boespflug-Tanguy, O., Vallée, L, seng, R., Tardieu, M., Landrieu, P.:J Med Genet: 15173251
118 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 2947 Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome; a cohort of 171 cases:Kammoun, F., de Roux, N, Boespflug-Tanguy, O., Vallée, L, seng, R., Tardieu, M., Landrieu, P.:J Med Genet: 15173251
119 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Not Rett synd. 2976 Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome; a cohort of 171 cases:Kammoun, F., de Roux, N, Boespflug-Tanguy, O., Vallée, L, seng, R., Tardieu, M., Landrieu, P.:J Med Genet: 15173251
120 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 3001 MECP2 gene mutation analysis in Chinese patients with Rett syndrome:Pan, H., Wang, Y.-P., Bao, X.-H., Meng, H.-D., Zhang, Y., Wu, X.-R-. Shen, Y.:European Journal of Human Genetics: 12111643
121 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 3002 MECP2 gene mutation analysis in Chinese patients with Rett syndrome:Pan, H., Wang, Y.-P., Bao, X.-H., Meng, H.-D., Zhang, Y., Wu, X.-R-. Shen, Y.:European Journal of Human Genetics: 12111643
122 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 3014 MECP2 mutations in Swedish Rett syndrome clusters:Xiang, F., Stenbom, Y., Anvret, M.:Clinical Genetics: 12081725
123 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 3015 MECP2 mutations in Swedish Rett syndrome clusters:Xiang, F., Stenbom, Y., Anvret, M.:Clinical Genetics: 12081725
124 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 3018 MECP2 mutations in Swedish Rett syndrome clusters:Xiang, F., Stenbom, Y., Anvret, M.:Clinical Genetics: 12081725
125 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3143 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
126 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3144 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
127 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3145 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
128 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3146 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
129 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3147 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
130 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3148 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
131 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3149 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
132 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3150 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
133 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3151 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
134 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3152 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
135 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3153 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
136 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3154 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
137 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3155 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
138 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3156 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
139 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3157 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
140 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3158 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
141 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 3361 MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with X chromosome inactivation patterm:Nielsen JB, Henriksen KF, Hansen C, Silahtaroglu A, Schwartz M, Tommerup N:European Journal of Human Genetics: 11313756
142 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 3362 MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with X chromosome inactivation patterm:Nielsen JB, Henriksen KF, Hansen C, Silahtaroglu A, Schwartz M, Tommerup N:European Journal of Human Genetics: 11313756
143 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 3386 Mutation analysis of the methyl-CpG-biding protein 2 gene (MECP2) in Rett patients with preserved speech:Yamashita Y, Kondo I, Fukuda T, Morishima R, Kusaga A, Iwanaga R, Matsuishi T:Brain & Development: 11738864
144 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 3387 Mutation analysis of the methyl-CpG-biding protein 2 gene (MECP2) in Rett patients with preserved speech:Yamashita Y, Kondo I, Fukuda T, Morishima R, Kusaga A, Iwanaga R, Matsuishi T:Brain & Development: 11738864
145 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 3388 Mutation analysis of the methyl-CpG-biding protein 2 gene (MECP2) in Rett patients with preserved speech:Yamashita Y, Kondo I, Fukuda T, Morishima R, Kusaga A, Iwanaga R, Matsuishi T:Brain & Development: 11738864
146 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-preserved speech 3389 Mutation analysis of the methyl-CpG-biding protein 2 gene (MECP2) in Rett patients with preserved speech:Yamashita Y, Kondo I, Fukuda T, Morishima R, Kusaga A, Iwanaga R, Matsuishi T:Brain & Development: 11738864
147 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3453 Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070
148 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3454 Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070
149 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3455 Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070
150 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3456 Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070
151 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3457 Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070
152 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3458 Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070
153 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3459 Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070
154 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3460 Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070
155 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3461 Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070
156 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3560 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
157 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3561 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
158 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3562 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
159 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3563 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
160 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 3679 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
161 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-atypical 3680 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
162 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-atypical 3681 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
163 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-atypical 3682 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
164 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-atypical 3683 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
165 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-atypical 3684 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
166 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-atypical 3685 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
167 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 3797 Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome:Inui, K, Akagi M, Ono J, Tsukamoto H, Shimono K, Mano T, Imai K, Yamada M, Muramatsu T, Sakai N, Okada S:Brain & Development: 11376998
168 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 3806 Rett syndrome: prevalence among Chinese and a comparison of MECP2 mutations of classic Rett syndrome with other neurodevelopmental disorder:Wong, V.C.N., Li, S.Y.H.:Journal of Child Neurology: 18174559
169 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 3873 A novel MECP2 gene mutation in a Tunisian patient with Rett syndrome:Fendri-Kriaa, N., Abdelkafi,Z., Rebeh, I.B., Kamoun, F., Triki, C., Fakhfakh, F.:Genetic Testing and Molecular Biomarkers: 19309283
170 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 4066 Spectrum of MECP2 mutations in Rett syndrome:Lee SSJ, Wan M, Francke U:Brain & Development: 11738860
171 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 4088 Methyl-CpG binding protein 2 (MECP2) gene mutations in an Italian sample of patients with pervasive developmental disorder and mental retardation:Parmeggiani, A., Tedde, M.R., Arbizzani, A., Posar, A., Scaduto, M.C., Santucci, M., Sangiorgi, S.:Journal of Child Neurology: 19189931
172 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 4089 Methyl-CpG binding protein 2 (MECP2) gene mutations in an Italian sample of patients with pervasive developmental disorder and mental retardation:Parmeggiani, A., Tedde, M.R., Arbizzani, A., Posar, A., Scaduto, M.C., Santucci, M., Sangiorgi, S.:Journal of Child Neurology: 19189931
173 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Not Known 4122 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578
174 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Not Known 4123 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578
175 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Not Known 4124 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578
176 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Not Known 4125 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578
177 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Not Known 4126 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578
178 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Not Known 4127 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578
179 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Not Known 4128 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578
180 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-forme fruste 5299 Brief report: MECP2 mutations in people without Rett syndrome:Suter, B., Treadwell-Deering, D., Zoghbi, H.Y., Glaze, D.G., Neul, J.L.:J Autism Dev Disord: 23921973
181 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-Classical 4275 Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030
182 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-Atypical 4276 Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030
183 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-Atypical 4277 Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030
184 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-Classical 4278 Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030
185 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-Classical 4279 Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030
186 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-Classical 4280 Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030
187 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-Classical 4281 Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030
188 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-Classical 4282 Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030
189 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-Classical 4283 Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030
190 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-Classical 4284 Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030
191 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 4310 Spectrum of MECP2 mutations in New Zealand Rett syndrome patients:Raizis, A.M., Saleem, M., MacKay, R., George, P.M.:New Zealand Medical Journal: 19652677
192 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Not Known 4507 :Das, S., Dempsey, M. U. Chicago::
193 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Not Known 4508 :Das, S., Dempsey, M. U. Chicago::
194 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Not Known 4509 :Das, S., Dempsey, M. U. Chicago::
195 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Not Known 4510 :Das, S., Dempsey, M. U. Chicago::
196 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Not Known 4511 :Das, S., Dempsey, M. U. Chicago::
197 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 4747 Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations:Hadzsiev, K., Polgar, N., Bene, J., Jomlosi, K., Karteszi, J., Hollody, K., Kosztolanyi, G., Renieri, A., Melegh, B.:Journal of Human Genetics: 21160487
198 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 4816 Molecular screening of MECP2 gene in a cohort of Lebanese patients suspected with Rett syndrome: report on a mild case with a novel indel mutation:Corbani, S., Chouery, E., Fayyad, J., Fawaz, A., El Tourjuman, O., Badens, C., Lacoste, C., Delague, V., Megarbane, A.:Journal of Intellectual Disability Research: 21954873
199 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 4840 MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Brain & Development: 21982064
200 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 4841 MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Brain & Development: 21982064
201 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 4883 Molecular diagnostic dilemmas in Rett syndrome:Zvereff, V., Carpenter, L., Patton, D., Cabral, H., Rita, D., Wilson, A., Anyane-Yeboa, K., White, L., Friedman, K.J.:Brain & Development: 22277191
202 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 4884 Molecular diagnostic dilemmas in Rett syndrome:Zvereff, V., Carpenter, L., Patton, D., Cabral, H., Rita, D., Wilson, A., Anyane-Yeboa, K., White, L., Friedman, K.J.:Brain & Development: 22277191
203 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 4885 Molecular diagnostic dilemmas in Rett syndrome:Zvereff, V., Carpenter, L., Patton, D., Cabral, H., Rita, D., Wilson, A., Anyane-Yeboa, K., White, L., Friedman, K.J.:Brain & Development: 22277191
204 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-atypical 4886 Molecular diagnostic dilemmas in Rett syndrome:Zvereff, V., Carpenter, L., Patton, D., Cabral, H., Rita, D., Wilson, A., Anyane-Yeboa, K., White, L., Friedman, K.J.:Brain & Development: 22277191
205 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-atypical 4887 Molecular diagnostic dilemmas in Rett syndrome:Zvereff, V., Carpenter, L., Patton, D., Cabral, H., Rita, D., Wilson, A., Anyane-Yeboa, K., White, L., Friedman, K.J.:Brain & Development: 22277191
206 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 4908 Genetic and epileptic features in Rett syndrome:Kim, H.J., Kim, S.H., Kim, H.D., Lee, J.S., Lee, Y.-M., Koo, K.Y., Lee, J.S., Kang, H.-C.:Yonsei Med J: 22476991
207 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 4909 Genetic and epileptic features in Rett syndrome:Kim, H.J., Kim, S.H., Kim, H.D., Lee, J.S., Lee, Y.-M., Koo, K.Y., Lee, J.S., Kang, H.-C.:Yonsei Med J: 22476991
208 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 4910 Genetic and epileptic features in Rett syndrome:Kim, H.J., Kim, S.H., Kim, H.D., Lee, J.S., Lee, Y.-M., Koo, K.Y., Lee, J.S., Kang, H.-C.:Yonsei Med J: 22476991
209 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 4924 Spontaneous recurrent mutations and a complex rearrangement in the MECP2 gene in the light of current models of mutagenesis:Todorov, T., Todorova, A., motoescu, C., Dimova, P., Iancu, D., Craiu, D., Stoian, D., Barbarii, L., Bojinova, V., Mitev, V.:Mutation Research: 22525432
210 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 5047 Spectrum of MECP2 mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations:Das, D.K., Raha, S., Sanghavi, D., Maitra, A., Udani, V.:Gene: 23262346
211 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-not certain 5048 Spectrum of MECP2 mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations:Das, D.K., Raha, S., Sanghavi, D., Maitra, A., Udani, V.:Gene: 23262346
212 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-atypical 6876 :Lewis Suzanne::
213 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-atypical 6751 MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype–phenotype correlations and validation of high-resolution melting analysis for mutation scanning:Daniela Zahorakova,Petra Lelkova,Vladimir Gregor,Martin Magner,Jiri Zeman and Pavel Martasek:Journal of Human Genetics: 26984561
214 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 6750 MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype–phenotype correlations and validation of high-resolution melting analysis for mutation scanning:Daniela Zahorakova,Petra Lelkova,Vladimir Gregor,Martin Magner,Jiri Zeman and Pavel Martasek:Journal of Human Genetics: 26984561
215 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Not Known 6749 MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype–phenotype correlations and validation of high-resolution melting analysis for mutation scanning:Daniela Zahorakova,Petra Lelkova,Vladimir Gregor,Martin Magner,Jiri Zeman and Pavel Martasek:Journal of Human Genetics: 26984561
216 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 6384 :::
217 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 6383 :::
218 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 6382 :::
219 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Not Rett synd. 6381 :::
220 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 6380 :::
221 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 6379 :::
222 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 6378 :::
223 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 6377 :::
224 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 6376 :::
225 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 6374 :::
226 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 6375 :::
227 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-forme fruste 6373 :::
228 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 6372 :::
229 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Not Rett synd. 6371 :::
230 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 6370 :::
231 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 6369 :::
232 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 6367 :::
233 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 6368 :::
234 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 6366 :::
235 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 6365 :::
236 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 6364 :::
237 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 6363 :::
238 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 6361 :::
239 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Not Rett synd. 6362 :::
240 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 6360 :::
241 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 6359 :::
242 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 6358 :::
243 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 6357 :::
244 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 6356 :::
245 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 6355 :::
246 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Not Rett synd. 6354 :::
247 c.916C>T p.Arg306Cys missense TRD Mutation associated with disease Female Rett syndrome-classical 7035 MECP2 mutation in a boy with severe apnea and sick sinus syndrome:Tsutomu Shioda ,Satoru Takahashi,Tadashi Kaname , Toyohiro Yamauchi, Tetsuya Fukuoka :Brain & Development: 29631775