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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