Proband information
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.[609G>A(;)905C>T] | p.[Thr203Thr(;)Pro302Leu] | Female | Rett syndrome-Not certain | 1875 | :Bunyan, D.:: |