. . . . . . . "[Mutations in the EYA1 gene on the chromosome band 8q13.3, have been identified to be the underlying genetic defects/found a Korean family with BOR syndrome and identified a novel insertion mutation (c.1474 _ 1475insC; R492PfsX40) in the EYA1 gene.]. 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 . "2017-10-17T13:12:33+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .