FOXG1 Proband Search Results



cDNA name Protein name Pathogenicity class Phenotype Gender Reference Proband ID
c.256dupC p.Gln86Profs*35 pathogenic variant Rett syndrome - sporadic Female 22129046 Takahashi, S. et al (2012) fp28
c.689G>A p.Arg230His pathogenic variant Rett syndrome - sporadic Female 22129046 Takahashi, S. et al (2012) fp29

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