CDKL5 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.2494C>T | p.Gln832* | pathogenic variant | Not Rett syndrome - ISSX | Female | 23647072 Veeramah et al (2013) | cp417 |
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