FOXG1 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.974_975insA | p.Ser326Glufs*129 | likely pathogenic variant | Not Rett syndrome - sporadic | Male | 24766421 Diebold, B. et al (2014) | fp1 |
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