Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP52164.RArzXSBTod5b4-7UbMO0OrYxyiOOhFLw2-tZOzmYzaQn0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP52164.RArzXSBTod5b4-7UbMO0OrYxyiOOhFLw2-tZOzmYzaQn0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP52164.RArzXSBTod5b4-7UbMO0OrYxyiOOhFLw2-tZOzmYzaQn0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP52164.RArzXSBTod5b4-7UbMO0OrYxyiOOhFLw2-tZOzmYzaQn0130_provenance.
- NP52164.RArzXSBTod5b4-7UbMO0OrYxyiOOhFLw2-tZOzmYzaQn0130_assertion description "[The most common mutations were K790X (19.5%), P664L (6.0%), FH-Tonami-1 (6.0%), IVS15-3C>A (5.5%) and FH-Tonami-2 (4.5%), whereas the other mutations were rare. No apolipoprotein B (apoB) mutations responsible for familial ligand-defective apoB-100 (FDB)]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP52164.RArzXSBTod5b4-7UbMO0OrYxyiOOhFLw2-tZOzmYzaQn0130_provenance.
- NP52164.RArzXSBTod5b4-7UbMO0OrYxyiOOhFLw2-tZOzmYzaQn0130_assertion evidence source_evidence_literature NP52164.RArzXSBTod5b4-7UbMO0OrYxyiOOhFLw2-tZOzmYzaQn0130_provenance.
- NP52164.RArzXSBTod5b4-7UbMO0OrYxyiOOhFLw2-tZOzmYzaQn0130_assertion SIO_000772 12417285 NP52164.RArzXSBTod5b4-7UbMO0OrYxyiOOhFLw2-tZOzmYzaQn0130_provenance.
- NP52164.RArzXSBTod5b4-7UbMO0OrYxyiOOhFLw2-tZOzmYzaQn0130_assertion wasDerivedFrom gad-20130706 NP52164.RArzXSBTod5b4-7UbMO0OrYxyiOOhFLw2-tZOzmYzaQn0130_provenance.
- NP52164.RArzXSBTod5b4-7UbMO0OrYxyiOOhFLw2-tZOzmYzaQn0130_assertion wasGeneratedBy ECO_0000203 NP52164.RArzXSBTod5b4-7UbMO0OrYxyiOOhFLw2-tZOzmYzaQn0130_provenance.
- gad-20130706 importedOn "2013-07-06" NP52164.RArzXSBTod5b4-7UbMO0OrYxyiOOhFLw2-tZOzmYzaQn0130_provenance.