Proband information
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.194C>G | p.Ser65* | Female | Not Known | 1732 | :Friez, Michael:: | |
2 | c.194C>G | p.Ser65* | Female | Not Known | 4424 | :Das, S., Dempsey, M. U. Chicago:: |