Proband information
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.651_652delTG | p.Gly218fs | Female | Not Known | 1774 | :Friez, Michael:: | |
2 | c.651_652delTG | p.Gly218fs | Female | Rett syndrome-not certain | 2542 | The MECP2 gene mutation screening in Rett Syndrome patients from Croatia:Matijevic, T., Knezeviv, J., Barisic, I., Resic, B., Culic, V., Pavelic, J.:Annals New York Academy of Sciences: 17341617 |