CDKL5 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.216T>A | p.= | benign variant | Rett syndrome - atypical | Female | 17089071 Li et al (2007) | cp56 |
Displaying 1 entries
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.216T>A | p.= | benign variant | Rett syndrome - atypical | Female | 17089071 Li et al (2007) | cp56 |
Displaying 1 entries