FOXG1 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.136C>T | p.Gln46* | pathogenic variant | Not Rett syndrome - sporadic | Female | 22091895 De Filippis, R. et al (2012) | fp35 |
c.1200C>A | p.Tyr400* | pathogenic variant | Not Rett syndrome - sporadic | Female | 22091895 De Filippis, R. et al (2012) | fp36 |
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