. . . . . . . "[study presents a missense mutation in exon 1 of K14, R125C, identified in the affected individuals of a Chinese family with epidermolysis bullosa simplex-Dowling-Meara (EBS-DM)]. 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 . "2017-10-17T13:14:12+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .