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 | 22968132 Ellaway, C.J. et al (2012) | fp33 |
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