Proband information
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.695dupG | p.Lys233fs | Female | Rett syndrome-not certain | 4317 | 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 | |
2 | c.695dupG | p.Lys233fs | Female | Rett syndrome-classical | 6635 | ::: |