FOXG1 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.765G>A | p.Trp255* | pathogenic variant | Rett syndrome - sporadic | Female | 18571142 Ariani, F. et al (2008) | fp3 |
c.969delC | p.Ser323Argfs*3 | pathogenic variant | Rett syndrome - sporadic | Female | 18571142 Ariani, F. et al (2008) | fp4 |
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