Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP433894.RAXYWs735fOEY4H30caYko0wxvpBh7sL-tIYGhFyhvzRE130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP433894.RAXYWs735fOEY4H30caYko0wxvpBh7sL-tIYGhFyhvzRE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP433894.RAXYWs735fOEY4H30caYko0wxvpBh7sL-tIYGhFyhvzRE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP433894.RAXYWs735fOEY4H30caYko0wxvpBh7sL-tIYGhFyhvzRE130_provenance.
- NP433894.RAXYWs735fOEY4H30caYko0wxvpBh7sL-tIYGhFyhvzRE130_assertion description "[These include the hyperinsulinism/hyperammonemia syndrome caused by dominant activating mutations of GLUD1 which interfere with inhibitory regulation by GTP and hyperinsulinism due to recessive deficiency of short-chain 3-hydroxy-acyl-CoA dehydrogenase (SCHAD, encoded by HADH1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP433894.RAXYWs735fOEY4H30caYko0wxvpBh7sL-tIYGhFyhvzRE130_provenance.
- NP433894.RAXYWs735fOEY4H30caYko0wxvpBh7sL-tIYGhFyhvzRE130_assertion evidence source_evidence_literature NP433894.RAXYWs735fOEY4H30caYko0wxvpBh7sL-tIYGhFyhvzRE130_provenance.
- NP433894.RAXYWs735fOEY4H30caYko0wxvpBh7sL-tIYGhFyhvzRE130_assertion SIO_000772 21130127 NP433894.RAXYWs735fOEY4H30caYko0wxvpBh7sL-tIYGhFyhvzRE130_provenance.
- NP433894.RAXYWs735fOEY4H30caYko0wxvpBh7sL-tIYGhFyhvzRE130_assertion wasDerivedFrom befree-20150227 NP433894.RAXYWs735fOEY4H30caYko0wxvpBh7sL-tIYGhFyhvzRE130_provenance.
- NP433894.RAXYWs735fOEY4H30caYko0wxvpBh7sL-tIYGhFyhvzRE130_assertion wasGeneratedBy ECO_0000203 NP433894.RAXYWs735fOEY4H30caYko0wxvpBh7sL-tIYGhFyhvzRE130_provenance.
- befree-20150227 importedOn "2015-02-27" NP433894.RAXYWs735fOEY4H30caYko0wxvpBh7sL-tIYGhFyhvzRE130_provenance.