Proband information
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.413T>C | p.Leu138Ser | Female | Rett syndrome-classical | 4394 | :Khajuria, R.:: |
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.413T>C | p.Leu138Ser | Female | Rett syndrome-classical | 4394 | :Khajuria, R.:: |