CDKL5 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.530A>G | p.Tyr177Cys | variant of uncertain significance | Not Rett syndrome | Female | 27265524 Christianto, A. et al (2016) | cp584 |
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