Proband information
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.[502C>T; 880C>T] | p.Arg168* | Female | negative | Rett syndrome-classical | 6621 | ::: |
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.[502C>T; 880C>T] | p.Arg168* | Female | negative | Rett syndrome-classical | 6621 | ::: |