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 | 22129046 Takahashi, S. et al (2012) | fp28 |
c.689G>A | p.Arg230His | pathogenic variant | Rett syndrome - sporadic | Female | 22129046 Takahashi, S. et al (2012) | fp29 |
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