FOXG1 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.506dup | p.Lys170Glnfs*285 | pathogenic variant | Not Rett syndrome - sporadic | Male | 24388699 De Bruyn, C. et al (2014) | fp42 |
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