Proband information
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.390dupA | p.Ala131fs | Female | Rett syndrome-classical | 6636 | ::: |
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.390dupA | p.Ala131fs | Female | Rett syndrome-classical | 6636 | ::: |