Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP3738.RAcr_lFKuVryzwaPrj78l9gc5NgXs9j16EVj5FkXRgCEA130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP3738.RAcr_lFKuVryzwaPrj78l9gc5NgXs9j16EVj5FkXRgCEA130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP3738.RAcr_lFKuVryzwaPrj78l9gc5NgXs9j16EVj5FkXRgCEA130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP3738.RAcr_lFKuVryzwaPrj78l9gc5NgXs9j16EVj5FkXRgCEA130_provenance.
- NP3738.RAcr_lFKuVryzwaPrj78l9gc5NgXs9j16EVj5FkXRgCEA130_assertion wasGeneratedBy ECO_0000218 NP3738.RAcr_lFKuVryzwaPrj78l9gc5NgXs9j16EVj5FkXRgCEA130_provenance.
- NP3738.RAcr_lFKuVryzwaPrj78l9gc5NgXs9j16EVj5FkXRgCEA130_assertion wasDerivedFrom uniprot-20130724 NP3738.RAcr_lFKuVryzwaPrj78l9gc5NgXs9j16EVj5FkXRgCEA130_provenance.
- NP3738.RAcr_lFKuVryzwaPrj78l9gc5NgXs9j16EVj5FkXRgCEA130_assertion SIO_000772 8807342 NP3738.RAcr_lFKuVryzwaPrj78l9gc5NgXs9j16EVj5FkXRgCEA130_provenance.
- NP3738.RAcr_lFKuVryzwaPrj78l9gc5NgXs9j16EVj5FkXRgCEA130_assertion evidence source_evidence_curated NP3738.RAcr_lFKuVryzwaPrj78l9gc5NgXs9j16EVj5FkXRgCEA130_provenance.
- NP3738.RAcr_lFKuVryzwaPrj78l9gc5NgXs9j16EVj5FkXRgCEA130_assertion description "[Complete deficiency of plasma lecithin-cholesterol acyltransferase (LCAT) activity due to a novel homozygous mutation (Gly-30-Ser) in the LCAT gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3738.RAcr_lFKuVryzwaPrj78l9gc5NgXs9j16EVj5FkXRgCEA130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP3738.RAcr_lFKuVryzwaPrj78l9gc5NgXs9j16EVj5FkXRgCEA130_provenance.