Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP220364.RAdZtkfZHAP5_THT6Jen9KO1wK7JavU2ery1CfRfM9bXQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP220364.RAdZtkfZHAP5_THT6Jen9KO1wK7JavU2ery1CfRfM9bXQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP220364.RAdZtkfZHAP5_THT6Jen9KO1wK7JavU2ery1CfRfM9bXQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP220364.RAdZtkfZHAP5_THT6Jen9KO1wK7JavU2ery1CfRfM9bXQ130_provenance.
- befree-20150227 importedOn "2015-02-27" NP220364.RAdZtkfZHAP5_THT6Jen9KO1wK7JavU2ery1CfRfM9bXQ130_provenance.
- NP220364.RAdZtkfZHAP5_THT6Jen9KO1wK7JavU2ery1CfRfM9bXQ130_assertion wasGeneratedBy ECO_0000203 NP220364.RAdZtkfZHAP5_THT6Jen9KO1wK7JavU2ery1CfRfM9bXQ130_provenance.
- NP220364.RAdZtkfZHAP5_THT6Jen9KO1wK7JavU2ery1CfRfM9bXQ130_assertion wasDerivedFrom befree-20150227 NP220364.RAdZtkfZHAP5_THT6Jen9KO1wK7JavU2ery1CfRfM9bXQ130_provenance.
- NP220364.RAdZtkfZHAP5_THT6Jen9KO1wK7JavU2ery1CfRfM9bXQ130_assertion SIO_000772 8102510 NP220364.RAdZtkfZHAP5_THT6Jen9KO1wK7JavU2ery1CfRfM9bXQ130_provenance.
- NP220364.RAdZtkfZHAP5_THT6Jen9KO1wK7JavU2ery1CfRfM9bXQ130_assertion evidence source_evidence_literature NP220364.RAdZtkfZHAP5_THT6Jen9KO1wK7JavU2ery1CfRfM9bXQ130_provenance.
- NP220364.RAdZtkfZHAP5_THT6Jen9KO1wK7JavU2ery1CfRfM9bXQ130_assertion description "[A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP220364.RAdZtkfZHAP5_THT6Jen9KO1wK7JavU2ery1CfRfM9bXQ130_provenance.