. . . . . . . "[Analysis of variants in the exome sequence data revealed a novel homozygous nonsense mutation (c.1081C?>?T, p.Arg361*) in TULP1, a gene with roles in photoreceptor function where mutations were previously shown to cause LCA and retinitis pigmentosa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2017-02-19"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2017-10-17T13:17:06+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .