. . . . . . . . . . . . "[A putative splice site mutation (IVS6-2delA) in BRCA1 identified in a family attending a familial cancer center demonstrates a sequence variation that prevents normal splicing of the BRCA1 transcript and conveys an increased risk of breast cancer.]. 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 . "2016-05-13T12:43:17+02:00"^^ . . . . . . . . . . . "v4.0.0.0" . "v4.0.0" .