CDKL5 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.2277-2A>G | p.? | pathogenic variant | Not Rett syndrome - infantile-onset seizure | Female | 22812903 Paine et al (2012) | cp299 |
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