Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1193.RAJJfnP1wtHzgNlJSvkbzB-7dYHENBGxHnxACcnsu8sr8130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP1193.RAJJfnP1wtHzgNlJSvkbzB-7dYHENBGxHnxACcnsu8sr8130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP1193.RAJJfnP1wtHzgNlJSvkbzB-7dYHENBGxHnxACcnsu8sr8130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP1193.RAJJfnP1wtHzgNlJSvkbzB-7dYHENBGxHnxACcnsu8sr8130_provenance.
- NP1193.RAJJfnP1wtHzgNlJSvkbzB-7dYHENBGxHnxACcnsu8sr8130_assertion description "[Our findings document that patients carrying these SCAD gene variations may develop clinically relevant SCAD deficiency, and that patients with even mild ethylmalonic aciduria should be tested for these variations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1193.RAJJfnP1wtHzgNlJSvkbzB-7dYHENBGxHnxACcnsu8sr8130_provenance.
- NP1193.RAJJfnP1wtHzgNlJSvkbzB-7dYHENBGxHnxACcnsu8sr8130_assertion evidence source_evidence_curated NP1193.RAJJfnP1wtHzgNlJSvkbzB-7dYHENBGxHnxACcnsu8sr8130_provenance.
- NP1193.RAJJfnP1wtHzgNlJSvkbzB-7dYHENBGxHnxACcnsu8sr8130_assertion SIO_000772 11134486 NP1193.RAJJfnP1wtHzgNlJSvkbzB-7dYHENBGxHnxACcnsu8sr8130_provenance.
- NP1193.RAJJfnP1wtHzgNlJSvkbzB-7dYHENBGxHnxACcnsu8sr8130_assertion wasDerivedFrom uniprot-2016 NP1193.RAJJfnP1wtHzgNlJSvkbzB-7dYHENBGxHnxACcnsu8sr8130_provenance.
- NP1193.RAJJfnP1wtHzgNlJSvkbzB-7dYHENBGxHnxACcnsu8sr8130_assertion wasGeneratedBy ECO_0000218 NP1193.RAJJfnP1wtHzgNlJSvkbzB-7dYHENBGxHnxACcnsu8sr8130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP1193.RAJJfnP1wtHzgNlJSvkbzB-7dYHENBGxHnxACcnsu8sr8130_provenance.