. . . . . . . . . . . . "[The Smith-Lemli-Opitz Syndrome (SLOS) is an autosomal recessive condition that is characterized by a mutation in the DHCR7 encoding the 7-dehydrocholesterol-Δ7 reductase, the enzyme that catalyzes the last step in cholesterol biosynthesis.]. 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 . "2016-05-13T12:50:54+02:00"^^ . . . . . . . . . . . "v4.0.0.0" . "v4.0.0" .