Proband information
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.478dupA | p.Thr160fs | Female | Rett syndrome-classical | 6637 | ::: |
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.478dupA | p.Thr160fs | Female | Rett syndrome-classical | 6637 | ::: |