Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP402496.RAYZgnV7CY6K4s1WpH6Ojx9TSEHfNrckPsZJeRZgYHALE130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP402496.RAYZgnV7CY6K4s1WpH6Ojx9TSEHfNrckPsZJeRZgYHALE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP402496.RAYZgnV7CY6K4s1WpH6Ojx9TSEHfNrckPsZJeRZgYHALE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP402496.RAYZgnV7CY6K4s1WpH6Ojx9TSEHfNrckPsZJeRZgYHALE130_provenance.
- NP402496.RAYZgnV7CY6K4s1WpH6Ojx9TSEHfNrckPsZJeRZgYHALE130_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." NP402496.RAYZgnV7CY6K4s1WpH6Ojx9TSEHfNrckPsZJeRZgYHALE130_provenance.
- NP402496.RAYZgnV7CY6K4s1WpH6Ojx9TSEHfNrckPsZJeRZgYHALE130_assertion evidence source_evidence_literature NP402496.RAYZgnV7CY6K4s1WpH6Ojx9TSEHfNrckPsZJeRZgYHALE130_provenance.
- NP402496.RAYZgnV7CY6K4s1WpH6Ojx9TSEHfNrckPsZJeRZgYHALE130_assertion SIO_000772 11001806 NP402496.RAYZgnV7CY6K4s1WpH6Ojx9TSEHfNrckPsZJeRZgYHALE130_provenance.
- NP402496.RAYZgnV7CY6K4s1WpH6Ojx9TSEHfNrckPsZJeRZgYHALE130_assertion wasDerivedFrom befree-20140225 NP402496.RAYZgnV7CY6K4s1WpH6Ojx9TSEHfNrckPsZJeRZgYHALE130_provenance.
- NP402496.RAYZgnV7CY6K4s1WpH6Ojx9TSEHfNrckPsZJeRZgYHALE130_assertion wasGeneratedBy ECO_0000203 NP402496.RAYZgnV7CY6K4s1WpH6Ojx9TSEHfNrckPsZJeRZgYHALE130_provenance.
- befree-20140225 importedOn "2014-02-25" NP402496.RAYZgnV7CY6K4s1WpH6Ojx9TSEHfNrckPsZJeRZgYHALE130_provenance.