Proband information
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.1087A>T | p.Lys363* | Female | Not Known | 1717 | :Friez, Michael:: | |
2 | c.1087A>T | p.Lys363* | Female | Rett syndrome-Classical | 2106 | :Cardiff, UK:: |