. . . . . . . . . . . . "[NIPBL mutations in Cornelia de Lange syndrome: truncating, splice-site, missense, in-frame deletion & regulatory; truncating mutations most frequent in patients with high clinical score; most splice-site & all missense mutations in low-medium score group ]. 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" .