[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.
Gene-disease associations inferred from text-mining the literature.
DisGeNET evidence - LITERATURE