FOXG1 Proband Search Results



cDNA name Protein name Pathogenicity class Phenotype Gender Reference Proband ID
c.326C>T p.Pro109Leu likely benign variant Not Rett syndrome - sporadic Female 21280142 Le Guen, T. et al (2010) fp14
c.326C>T p.Pro109Leu likely benign variant Not Rett syndrome - sporadic Male 21280142 Le Guen, T. et al (2010) fp15
c.730C>T p.Arg244Cys pathogenic variant Rett syndrome - sporadic Female 21280142 Le Guen, T. et al (2010) fp16

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