. . . . . . . "[We sequenced exons 4 and 5 of PRKCG and detected a missense mutation in exon 4, involving a G-- > A transition in nucleotide 353 and resulting in a glycine-to-aspartic acid substitution at residue 118 in a Dutch autosomal dominant cerebellar ataxia family]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2009-03-31"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2017-10-17T13:15:37+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .