[screened entire coding region of CDKL5 in 151 affected girls with a heterogeneous phenotype ranging from encephalopathy with epilepsy to atypical Rett syndrome, and identified 3 novel missense mutations in catalytic domain Ala40Val, Arg65Gln, Leu220Pro ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
Gene-disease associations inferred from text-mining the literature.
DisGeNET evidence - LITERATURE