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 22739344 Allou, L. et al (2012) fp30
c.256delC p.Gln86Argfs*106 pathogenic variant Rett syndrome - sporadic Male 22739344 Allou, L. et al (2012) fp31

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