Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP345571.RA83dufFwCqSVv3hWe4PUKGRT7DVqiKXYWw1_04oT-WH0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP345571.RA83dufFwCqSVv3hWe4PUKGRT7DVqiKXYWw1_04oT-WH0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP345571.RA83dufFwCqSVv3hWe4PUKGRT7DVqiKXYWw1_04oT-WH0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP345571.RA83dufFwCqSVv3hWe4PUKGRT7DVqiKXYWw1_04oT-WH0130_provenance.
- befree-2016 importedOn "2016-02-19" NP345571.RA83dufFwCqSVv3hWe4PUKGRT7DVqiKXYWw1_04oT-WH0130_provenance.
- NP345571.RA83dufFwCqSVv3hWe4PUKGRT7DVqiKXYWw1_04oT-WH0130_assertion wasGeneratedBy ECO_0000203 NP345571.RA83dufFwCqSVv3hWe4PUKGRT7DVqiKXYWw1_04oT-WH0130_provenance.
- NP345571.RA83dufFwCqSVv3hWe4PUKGRT7DVqiKXYWw1_04oT-WH0130_assertion wasDerivedFrom befree-2016 NP345571.RA83dufFwCqSVv3hWe4PUKGRT7DVqiKXYWw1_04oT-WH0130_provenance.
- NP345571.RA83dufFwCqSVv3hWe4PUKGRT7DVqiKXYWw1_04oT-WH0130_assertion SIO_000772 11851376 NP345571.RA83dufFwCqSVv3hWe4PUKGRT7DVqiKXYWw1_04oT-WH0130_provenance.
- NP345571.RA83dufFwCqSVv3hWe4PUKGRT7DVqiKXYWw1_04oT-WH0130_assertion evidence source_evidence_literature NP345571.RA83dufFwCqSVv3hWe4PUKGRT7DVqiKXYWw1_04oT-WH0130_provenance.
- NP345571.RA83dufFwCqSVv3hWe4PUKGRT7DVqiKXYWw1_04oT-WH0130_assertion description "[DNA samples of 98 unrelated Belgian patients with a family history of autosomal dominant hypercholesterolaemia were screened for mutations in the LDLR gene, after exclusion of known mutations causing familial defective apolipoprotein B-100 (FDB).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP345571.RA83dufFwCqSVv3hWe4PUKGRT7DVqiKXYWw1_04oT-WH0130_provenance.