CDKL5 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.197_198delCT | p.Leu67Glnfs*23 | pathogenic variant | Rett syndrome - atypical | Female | 27734276 Gokben, S. et al (2017) | cp585 |
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