Proband information
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.481_987del507ins8 | p.Gly161fs | Female | Rett syndrome-Classical | 2090 | :Cardiff, UK:: |
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.481_987del507ins8 | p.Gly161fs | Female | Rett syndrome-Classical | 2090 | :Cardiff, UK:: |