Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP21443.RA8MTemq-mmg3wLx7clAaMvVbE88ZMZg313uh9_gtlV74130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP21443.RA8MTemq-mmg3wLx7clAaMvVbE88ZMZg313uh9_gtlV74130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP21443.RA8MTemq-mmg3wLx7clAaMvVbE88ZMZg313uh9_gtlV74130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP21443.RA8MTemq-mmg3wLx7clAaMvVbE88ZMZg313uh9_gtlV74130_provenance.
- NP21443.RA8MTemq-mmg3wLx7clAaMvVbE88ZMZg313uh9_gtlV74130_assertion wasGeneratedBy ECO_0000218 NP21443.RA8MTemq-mmg3wLx7clAaMvVbE88ZMZg313uh9_gtlV74130_provenance.
- NP21443.RA8MTemq-mmg3wLx7clAaMvVbE88ZMZg313uh9_gtlV74130_assertion wasDerivedFrom ctd_human-20130708 NP21443.RA8MTemq-mmg3wLx7clAaMvVbE88ZMZg313uh9_gtlV74130_provenance.
- NP21443.RA8MTemq-mmg3wLx7clAaMvVbE88ZMZg313uh9_gtlV74130_assertion SIO_000772 12009418 NP21443.RA8MTemq-mmg3wLx7clAaMvVbE88ZMZg313uh9_gtlV74130_provenance.
- NP21443.RA8MTemq-mmg3wLx7clAaMvVbE88ZMZg313uh9_gtlV74130_assertion evidence source_evidence_curated NP21443.RA8MTemq-mmg3wLx7clAaMvVbE88ZMZg313uh9_gtlV74130_provenance.
- NP21443.RA8MTemq-mmg3wLx7clAaMvVbE88ZMZg313uh9_gtlV74130_assertion description "[A `de novo` mutation of the LDL-receptor gene as the cause of familial hypercholesterolemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP21443.RA8MTemq-mmg3wLx7clAaMvVbE88ZMZg313uh9_gtlV74130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP21443.RA8MTemq-mmg3wLx7clAaMvVbE88ZMZg313uh9_gtlV74130_provenance.