Proband information
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.46C>T | p.Gln16* | Female | Not Known | 1678 | :Friez, Michael:: | |
2 | c.46C>T | p.Gln16* | Female | Not Known | 1762 | :Friez, Michael:: |