. . . . . . . "[A novel splicing mutation (IVS5-1G > A) in the pre-mRNA splicing-factor gene PRPF31 causes retinitis pigmentosa in a large Chinese family/mutation results in a truncated protein of PRPF31.]. 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 . "2017-10-17T13:18:19+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .