CDKL5 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.1196A>C | p.Asn399Thr | variant of uncertain significance | Rett syndrome - early-onset seizures | Female | 19253388 Sprovieri et al (2009) | cp136 |
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