FOXG1 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.624C>G | p.Tyr208* | pathogenic variant | Rett syndrome | Female | 21488007 Roche-Martinez, A. et al (2012) | fp32 |
Displaying 1 entries
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.624C>G | p.Tyr208* | pathogenic variant | Rett syndrome | Female | 21488007 Roche-Martinez, A. et al (2012) | fp32 |
Displaying 1 entries