. . . . . . . "[We report here a novel DDR2 missense mutation, c.370C?>?T (p.Arg124Trp) in a Moroccan girl with SMED, SL-AC, identified by whole exome sequencing.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2017-01-25"^^ . . "Gene-disease associations manually curated."@en . "DisGeNET evidence - CURATED"@en . "2017-10-17T13:15:06+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .