. . . . . . . "[Smith-Lemli-Opitz syndrome (SLOS) (Online Mendelian Inheritance in Man, OMIM, 2001, http://www.ncbi.nlm.nih.gov/omim/ for SLOS, MIM 270400) is an autosomal recessive disorder of cholesterol biosynthesis caused by mutations of the 3beta-hydroxysterol Delta(7)-reductase gene, DHCR7.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2017-02-19"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2017-10-17T13:12:00+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .