. . . . . . . . . . . . "[A p.Glu2857X mutation exhibits mild pathogenic effects in COL7A1, and its uniqueness enables detailed analysis and comparison of the destabilizing effects of missense mutations in dystrophic epidermolysis bullosa patients.]. 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 . "2016-05-13T12:43:33+02:00"^^ . . . . . . . . . . . "v4.0.0.0" . "v4.0.0" .