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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