. . . . . . . . . . . . "[Study of 123 type 1 von Willebrand disease patients found 50 different mutations: 31 missense, 8 in the VWF transcriptional regulatory region, 5 deletions/insertions, 5 splicing consensus sequence ones & 1 nonsense/new sequence variations were found.]. 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 . "2014-10-02T12:33:21+02:00"^^ . . . . . . . . . . . "v2.1.0.0" . "v2.1.0" .