FOXG1 Proband Search Results



cDNA name Protein name Pathogenicity class Phenotype Gender Reference Proband ID
c.460dupG p.Glu154Glyfs*301 pathogenic variant Rett syndrome - sporadic Female 19806373 Bahi-Buisson, N. et al (2010) fp6
c.1248C>G p.Tyr416* likely pathogenic variant Rett syndrome - sporadic Female 19806373 Bahi-Buisson, N. et al (2010) fp5

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