Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP861651.RAq97nKJUtNVV9m9xN7VHSZWPAItqKShnWiHnjImJa5Ew130_assertion> ?p ?o ?g. }
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- NP861651.RAq97nKJUtNVV9m9xN7VHSZWPAItqKShnWiHnjImJa5Ew130_assertion type Assertion NP861651.RAq97nKJUtNVV9m9xN7VHSZWPAItqKShnWiHnjImJa5Ew130_head.
- NP861651.RAq97nKJUtNVV9m9xN7VHSZWPAItqKShnWiHnjImJa5Ew130_assertion description "[Smith-Lemli-Opitz syndrome (SLOS), an autosomal recessive condition with multiple malformations, mental retardation, and growth failure, results from markedly reduced activity of the final enzyme in the cholesterol biosynthetic pathway, 7-dehydrocholesterol reductase (DHCR7).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP861651.RAq97nKJUtNVV9m9xN7VHSZWPAItqKShnWiHnjImJa5Ew130_provenance.
- NP861651.RAq97nKJUtNVV9m9xN7VHSZWPAItqKShnWiHnjImJa5Ew130_assertion evidence source_evidence_literature NP861651.RAq97nKJUtNVV9m9xN7VHSZWPAItqKShnWiHnjImJa5Ew130_provenance.
- NP861651.RAq97nKJUtNVV9m9xN7VHSZWPAItqKShnWiHnjImJa5Ew130_assertion SIO_000772 11001806 NP861651.RAq97nKJUtNVV9m9xN7VHSZWPAItqKShnWiHnjImJa5Ew130_provenance.
- NP861651.RAq97nKJUtNVV9m9xN7VHSZWPAItqKShnWiHnjImJa5Ew130_assertion wasDerivedFrom befree-20140225 NP861651.RAq97nKJUtNVV9m9xN7VHSZWPAItqKShnWiHnjImJa5Ew130_provenance.
- NP861651.RAq97nKJUtNVV9m9xN7VHSZWPAItqKShnWiHnjImJa5Ew130_assertion wasGeneratedBy ECO_0000203 NP861651.RAq97nKJUtNVV9m9xN7VHSZWPAItqKShnWiHnjImJa5Ew130_provenance.