. . . . . . . "[screen of 247 branchio-oto-renal syndrome families detected five novel SIX1 mutations (c.50T > A, c.218A > C, c.317T > G, c.329G > A, c.334C > T) and one previously reported mutation (c.328C > T) seen in 5 unrelated families]. 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 . "2017-10-17T13:16:12+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .