. . . . . . . . . . . . "[Characterization of the human DHCR7 gene and the identification of mutations in patients with SLOS have revealed a complex picture of molecular heterogeneity and provided insights into the structure and function of DHCR7.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2016-02-19"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2016-05-13T12:44:12+02:00"^^ . . . . . . . . . . . "v4.0.0.0" . "v4.0.0" .