FOXG1 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.788_792delACGTG | p.Asp263Valfs*190 | pathogenic variant | Rett syndrome - sporadic | Female | 24412290 Das, D.K. et al (2014) | fp2 |
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