. . . . . . . "[A novel mutation in CRYBB1 associated with congenital cataract-microcornea syndrome: the p.Ser129Arg mutation destabilizes the ?B1/?A3-crystallin heteromer but not the ?B1-crystallin homomer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2017-02-19"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2017-10-17T13:11:45+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .