FOXG1 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.610C>T | p.Leu204Phe | pathogenic variant | Not Rett syndrome - sporadic | Female | 21953941 Meneret, A. et al (2012) | fp34 |
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