Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP316256.RARQY5VtdaWJVr1mSY8_BJRts25_Cb9UFerTS-5J3kdC0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP316256.RARQY5VtdaWJVr1mSY8_BJRts25_Cb9UFerTS-5J3kdC0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP316256.RARQY5VtdaWJVr1mSY8_BJRts25_Cb9UFerTS-5J3kdC0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP316256.RARQY5VtdaWJVr1mSY8_BJRts25_Cb9UFerTS-5J3kdC0130_provenance.
- befree-2016 importedOn "2016-02-19" NP316256.RARQY5VtdaWJVr1mSY8_BJRts25_Cb9UFerTS-5J3kdC0130_provenance.
- NP316256.RARQY5VtdaWJVr1mSY8_BJRts25_Cb9UFerTS-5J3kdC0130_assertion wasGeneratedBy ECO_0000203 NP316256.RARQY5VtdaWJVr1mSY8_BJRts25_Cb9UFerTS-5J3kdC0130_provenance.
- NP316256.RARQY5VtdaWJVr1mSY8_BJRts25_Cb9UFerTS-5J3kdC0130_assertion wasDerivedFrom befree-2016 NP316256.RARQY5VtdaWJVr1mSY8_BJRts25_Cb9UFerTS-5J3kdC0130_provenance.
- NP316256.RARQY5VtdaWJVr1mSY8_BJRts25_Cb9UFerTS-5J3kdC0130_assertion SIO_000772 11326085 NP316256.RARQY5VtdaWJVr1mSY8_BJRts25_Cb9UFerTS-5J3kdC0130_provenance.
- NP316256.RARQY5VtdaWJVr1mSY8_BJRts25_Cb9UFerTS-5J3kdC0130_assertion evidence source_evidence_literature NP316256.RARQY5VtdaWJVr1mSY8_BJRts25_Cb9UFerTS-5J3kdC0130_provenance.
- NP316256.RARQY5VtdaWJVr1mSY8_BJRts25_Cb9UFerTS-5J3kdC0130_assertion description "[Two inherited forms of hypercholesterolemia result from loss of LDLR activity: autosomal dominant familial hypercholesterolemia (FH), caused by mutations in the LDLR gene, and autosomal recessive hypercholesterolemia (ARH), of unknown etiology.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP316256.RARQY5VtdaWJVr1mSY8_BJRts25_Cb9UFerTS-5J3kdC0130_provenance.