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 | 22739344 Allou, L. et al (2012) | fp30 |
c.256delC | p.Gln86Argfs*106 | pathogenic variant | Rett syndrome - sporadic | Male | 22739344 Allou, L. et al (2012) | fp31 |
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