FOXG1 Proband Search Results



cDNA name Protein name Pathogenicity class Phenotype Gender Reference Proband ID
c.924G>A p.Trp308* pathogenic variant Not Rett syndrome - sporadic Female 19564653 Philippe, C et al (2010) fp11
c.1200C>G p.Tyr400* likely pathogenic variant Rett syndrome - sporadic Female 19564653 Philippe, C et al (2010) fp12

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