Proband information
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.865A>T | p.Lys289* | Female | Rett syndrome-Classical | 2105 | :Cardiff, UK:: |
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.865A>T | p.Lys289* | Female | Rett syndrome-Classical | 2105 | :Cardiff, UK:: |