Proband information
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.1278C>T | p.Ser426Ser | Female | de novo | Rett syndrome-atypical | 4079 | :Khajuria, R.:: |
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.1278C>T | p.Ser426Ser | Female | de novo | Rett syndrome-atypical | 4079 | :Khajuria, R.:: |