. . . . . . . "[A single-base mutation resulting in an arginine-519-cysteine (R519C) mutation of type II procollagen (COL2A1) has been shown to result in precocious osteoarthritis with mild spinal chondrodysplasia without severe foreshortening (OMIM 604864).]. 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 . "2017-10-17T13:11:38+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .