. . . . . . . "[Report on a large family with 11 patients with typical Czech dysplasia and sensorineural hearing loss/analysis documented the COL2A1 c.823C > T (R275C) mutation in all affected individuals.]. 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 . "2017-10-17T13:11:38+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .