Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP930267.RAUMSeYOK9KoQBZQJZPYb249eIctSoifESjVjvzHSvC7s130_assertion> ?p ?o ?g. }
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- NP930267.RAUMSeYOK9KoQBZQJZPYb249eIctSoifESjVjvzHSvC7s130_assertion type Assertion NP930267.RAUMSeYOK9KoQBZQJZPYb249eIctSoifESjVjvzHSvC7s130_head.
- NP930267.RAUMSeYOK9KoQBZQJZPYb249eIctSoifESjVjvzHSvC7s130_assertion description "[Smith-Lemli-Opitz syndrome (SLOS) is a multiple malformation syndrome due to mutations of the 7-dehydrocholesterol reductase gene (DHCR7), which leads to a deficiency of cholesterol synthesis and an accumulation of 7-dehydrocholesterol.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP930267.RAUMSeYOK9KoQBZQJZPYb249eIctSoifESjVjvzHSvC7s130_provenance.
- NP930267.RAUMSeYOK9KoQBZQJZPYb249eIctSoifESjVjvzHSvC7s130_assertion evidence source_evidence_literature NP930267.RAUMSeYOK9KoQBZQJZPYb249eIctSoifESjVjvzHSvC7s130_provenance.
- NP930267.RAUMSeYOK9KoQBZQJZPYb249eIctSoifESjVjvzHSvC7s130_assertion SIO_000772 21990131 NP930267.RAUMSeYOK9KoQBZQJZPYb249eIctSoifESjVjvzHSvC7s130_provenance.
- NP930267.RAUMSeYOK9KoQBZQJZPYb249eIctSoifESjVjvzHSvC7s130_assertion wasDerivedFrom befree-2016 NP930267.RAUMSeYOK9KoQBZQJZPYb249eIctSoifESjVjvzHSvC7s130_provenance.
- NP930267.RAUMSeYOK9KoQBZQJZPYb249eIctSoifESjVjvzHSvC7s130_assertion wasGeneratedBy ECO_0000203 NP930267.RAUMSeYOK9KoQBZQJZPYb249eIctSoifESjVjvzHSvC7s130_provenance.