Proband information
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.1276_*113del299ins3 | p.Ser426fs | Female | Not Known | 4421 | :Das, S., Dempsey, M. U. Chicago:: |