http://rdf.disgenet.org/resource/nanopub/NP2932.RAfdXREVC2nPPTTSFd0s1rMKzwGD02wWt4goo2EMxGttA#head http://rdf.disgenet.org/resource/nanopub/NP2932.RAfdXREVC2nPPTTSFd0s1rMKzwGD02wWt4goo2EMxGttA http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP2932.RAfdXREVC2nPPTTSFd0s1rMKzwGD02wWt4goo2EMxGttA#assertion http://rdf.disgenet.org/resource/nanopub/NP2932.RAfdXREVC2nPPTTSFd0s1rMKzwGD02wWt4goo2EMxGttA http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP2932.RAfdXREVC2nPPTTSFd0s1rMKzwGD02wWt4goo2EMxGttA#provenance http://rdf.disgenet.org/resource/nanopub/NP2932.RAfdXREVC2nPPTTSFd0s1rMKzwGD02wWt4goo2EMxGttA http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP2932.RAfdXREVC2nPPTTSFd0s1rMKzwGD02wWt4goo2EMxGttA#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP2932.RAfdXREVC2nPPTTSFd0s1rMKzwGD02wWt4goo2EMxGttA http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP2932.RAfdXREVC2nPPTTSFd0s1rMKzwGD02wWt4goo2EMxGttA#assertion http://rdf.disgenet.org/resource/gda/DGNaad44a8959183d86941683fb734a75b7 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/19 http://rdf.disgenet.org/resource/gda/DGNaad44a8959183d86941683fb734a75b7 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0003850 http://rdf.disgenet.org/resource/gda/DGNaad44a8959183d86941683fb734a75b7 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP2932.RAfdXREVC2nPPTTSFd0s1rMKzwGD02wWt4goo2EMxGttA#provenance http://rdf.disgenet.org/resource/nanopub/NP2932.RAfdXREVC2nPPTTSFd0s1rMKzwGD02wWt4goo2EMxGttA#assertion http://purl.org/dc/terms/description [We compared the consequences of an ABCA1 mutation that produced an apparent lack of atherosclerosis (Tangier family 1, N935S) with an ABCA1 mutation with functional ABCA1 knockout that was associated with severe atherosclerosis (Tangier family 2, Leu(548):Leu(575)-End), using primary and telomerase-immortalized fibroblasts.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP2932.RAfdXREVC2nPPTTSFd0s1rMKzwGD02wWt4goo2EMxGttA#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP2932.RAfdXREVC2nPPTTSFd0s1rMKzwGD02wWt4goo2EMxGttA#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/24196952 http://rdf.disgenet.org/resource/nanopub/NP2932.RAfdXREVC2nPPTTSFd0s1rMKzwGD02wWt4goo2EMxGttA#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP2932.RAfdXREVC2nPPTTSFd0s1rMKzwGD02wWt4goo2EMxGttA#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/BEFREE http://purl.org/pav/importedOn 2017-02-19 http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000212 http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP2932.RAfdXREVC2nPPTTSFd0s1rMKzwGD02wWt4goo2EMxGttA#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP2932.RAfdXREVC2nPPTTSFd0s1rMKzwGD02wWt4goo2EMxGttA http://purl.org/dc/terms/created 2017-10-17T13:10:12+02:00 http://rdf.disgenet.org/resource/nanopub/NP2932.RAfdXREVC2nPPTTSFd0s1rMKzwGD02wWt4goo2EMxGttA http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP2932.RAfdXREVC2nPPTTSFd0s1rMKzwGD02wWt4goo2EMxGttA http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP2932.RAfdXREVC2nPPTTSFd0s1rMKzwGD02wWt4goo2EMxGttA http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP2932.RAfdXREVC2nPPTTSFd0s1rMKzwGD02wWt4goo2EMxGttA http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP2932.RAfdXREVC2nPPTTSFd0s1rMKzwGD02wWt4goo2EMxGttA http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP2932.RAfdXREVC2nPPTTSFd0s1rMKzwGD02wWt4goo2EMxGttA http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP2932.RAfdXREVC2nPPTTSFd0s1rMKzwGD02wWt4goo2EMxGttA http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP2932.RAfdXREVC2nPPTTSFd0s1rMKzwGD02wWt4goo2EMxGttA http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP2932.RAfdXREVC2nPPTTSFd0s1rMKzwGD02wWt4goo2EMxGttA http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP2932.RAfdXREVC2nPPTTSFd0s1rMKzwGD02wWt4goo2EMxGttA http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP2932.RAfdXREVC2nPPTTSFd0s1rMKzwGD02wWt4goo2EMxGttA http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0