. . . . . . . . . . . . "[Rare variants in PAX3 are known to cause Waardenburg syndrome, which involves deafness, pigmentary abnormalities, and facial characteristics including a broad nasal bridge.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2016-02-19"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2016-05-13T12:49:00+02:00"^^ . . . . . . . . . . . "v4.0.0.0" . "v4.0.0" .