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- source_evidence_literature type ECO_0000212 NP618260.RAg6pwY2BmwQkctYZ9gmArgORfbvRpqd4WB_85zhQgZNk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP618260.RAg6pwY2BmwQkctYZ9gmArgORfbvRpqd4WB_85zhQgZNk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP618260.RAg6pwY2BmwQkctYZ9gmArgORfbvRpqd4WB_85zhQgZNk130_provenance.
- NP618260.RAg6pwY2BmwQkctYZ9gmArgORfbvRpqd4WB_85zhQgZNk130_assertion description "[Familial hypercholesterolaemia is a co-dominant inherited disorder of lipoprotein metabolism, in which defects in the gene for the low-density-lipoprotein (LDL) receptor result in a twofold increase in the plasma concentration of cholesterol and moderate-to-severe premature coronary heart disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP618260.RAg6pwY2BmwQkctYZ9gmArgORfbvRpqd4WB_85zhQgZNk130_provenance.
- NP618260.RAg6pwY2BmwQkctYZ9gmArgORfbvRpqd4WB_85zhQgZNk130_assertion evidence source_evidence_literature NP618260.RAg6pwY2BmwQkctYZ9gmArgORfbvRpqd4WB_85zhQgZNk130_provenance.
- NP618260.RAg6pwY2BmwQkctYZ9gmArgORfbvRpqd4WB_85zhQgZNk130_assertion SIO_000772 17607901 NP618260.RAg6pwY2BmwQkctYZ9gmArgORfbvRpqd4WB_85zhQgZNk130_provenance.
- NP618260.RAg6pwY2BmwQkctYZ9gmArgORfbvRpqd4WB_85zhQgZNk130_assertion wasDerivedFrom befree-2016 NP618260.RAg6pwY2BmwQkctYZ9gmArgORfbvRpqd4WB_85zhQgZNk130_provenance.
- NP618260.RAg6pwY2BmwQkctYZ9gmArgORfbvRpqd4WB_85zhQgZNk130_assertion wasGeneratedBy ECO_0000203 NP618260.RAg6pwY2BmwQkctYZ9gmArgORfbvRpqd4WB_85zhQgZNk130_provenance.
- befree-2016 importedOn "2016-02-19" NP618260.RAg6pwY2BmwQkctYZ9gmArgORfbvRpqd4WB_85zhQgZNk130_provenance.