Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP861651.RAq97nKJUtNVV9m9xN7VHSZWPAItqKShnWiHnjImJa5Ew130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP861651.RAq97nKJUtNVV9m9xN7VHSZWPAItqKShnWiHnjImJa5Ew130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP861651.RAq97nKJUtNVV9m9xN7VHSZWPAItqKShnWiHnjImJa5Ew130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP861651.RAq97nKJUtNVV9m9xN7VHSZWPAItqKShnWiHnjImJa5Ew130_provenance.
- 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.
- befree-20140225 importedOn "2014-02-25" NP861651.RAq97nKJUtNVV9m9xN7VHSZWPAItqKShnWiHnjImJa5Ew130_provenance.