. . . . . . . . . . . . "[This finding provided the molecular confirmation of the patient's clinical diagnosis and showed that, in addition to point mutations, deletions of the PAX2 gene contribute to the etiology of the renal-coloboma syndrome.]. 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 . "2016-05-13T12:49:10+02:00"^^ . . . . . . . . . . . "v4.0.0.0" . "v4.0.0" .