. . . . . . . "[A Japanese family with an autosomal dominant multiple epiphyseal dysplasia (MED EDM2) was studied; genomic analysis for COL9A2 identified an Ex3-1A > G heterozygous mutation, which has been proved to result in skipping of exon 3.]. 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 . "2017-10-17T13:11:39+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .