CDKL5 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.2908C>T | p.Arg970* | variant of uncertain significance | Rett syndrome - atypical | Female | 19428276 Psoni et al (2010) | cp194 |
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