http://rdf.disgenet.org/nanopublications.trig#NP231667.RACtFmSj9bJmng7vUXxnbG3KW7_fVdRLXdlgmUUDii7kI130_head http://rdf.disgenet.org/nanopublications.trig#NP231667.RACtFmSj9bJmng7vUXxnbG3KW7_fVdRLXdlgmUUDii7kI http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP231667.RACtFmSj9bJmng7vUXxnbG3KW7_fVdRLXdlgmUUDii7kI130_assertion http://rdf.disgenet.org/nanopublications.trig#NP231667.RACtFmSj9bJmng7vUXxnbG3KW7_fVdRLXdlgmUUDii7kI http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP231667.RACtFmSj9bJmng7vUXxnbG3KW7_fVdRLXdlgmUUDii7kI130_provenance http://rdf.disgenet.org/nanopublications.trig#NP231667.RACtFmSj9bJmng7vUXxnbG3KW7_fVdRLXdlgmUUDii7kI http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP231667.RACtFmSj9bJmng7vUXxnbG3KW7_fVdRLXdlgmUUDii7kI130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP231667.RACtFmSj9bJmng7vUXxnbG3KW7_fVdRLXdlgmUUDii7kI http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP231667.RACtFmSj9bJmng7vUXxnbG3KW7_fVdRLXdlgmUUDii7kI130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP231667.RACtFmSj9bJmng7vUXxnbG3KW7_fVdRLXdlgmUUDii7kI130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP231667.RACtFmSj9bJmng7vUXxnbG3KW7_fVdRLXdlgmUUDii7kI130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP231667.RACtFmSj9bJmng7vUXxnbG3KW7_fVdRLXdlgmUUDii7kI130_assertion http://identifiers.org/ncbigene/3949 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C0018799 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/gene-disease-association.ttl#DGN007996647622ace55acfd37568c68ea7 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3949 http://rdf.disgenet.org/gene-disease-association.ttl#DGN007996647622ace55acfd37568c68ea7 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0018799 http://rdf.disgenet.org/gene-disease-association.ttl#DGN007996647622ace55acfd37568c68ea7 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP231667.RACtFmSj9bJmng7vUXxnbG3KW7_fVdRLXdlgmUUDii7kI130_provenance http://rdf.disgenet.org/nanopublications.trig#NP231667.RACtFmSj9bJmng7vUXxnbG3KW7_fVdRLXdlgmUUDii7kI130_assertion http://purl.org/dc/terms/description [Familial hypercholesterolemia (FH) is caused by mutations in the genes for LDLR, APOB or PCSK9, and identification of the causative mutation provides definitive diagnosis so that the patient can be treated, their relatives tested and, therefore, premature heart disease prevented.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP231667.RACtFmSj9bJmng7vUXxnbG3KW7_fVdRLXdlgmUUDii7kI130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP231667.RACtFmSj9bJmng7vUXxnbG3KW7_fVdRLXdlgmUUDii7kI130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23130880 http://rdf.disgenet.org/nanopublications.trig#NP231667.RACtFmSj9bJmng7vUXxnbG3KW7_fVdRLXdlgmUUDii7kI130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP231667.RACtFmSj9bJmng7vUXxnbG3KW7_fVdRLXdlgmUUDii7kI130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#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/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP231667.RACtFmSj9bJmng7vUXxnbG3KW7_fVdRLXdlgmUUDii7kI130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP231667.RACtFmSj9bJmng7vUXxnbG3KW7_fVdRLXdlgmUUDii7kI http://purl.org/dc/terms/created 2014-10-02T12:34:10+02:00 http://rdf.disgenet.org/nanopublications.trig#NP231667.RACtFmSj9bJmng7vUXxnbG3KW7_fVdRLXdlgmUUDii7kI http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP231667.RACtFmSj9bJmng7vUXxnbG3KW7_fVdRLXdlgmUUDii7kI http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP231667.RACtFmSj9bJmng7vUXxnbG3KW7_fVdRLXdlgmUUDii7kI http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP231667.RACtFmSj9bJmng7vUXxnbG3KW7_fVdRLXdlgmUUDii7kI http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP231667.RACtFmSj9bJmng7vUXxnbG3KW7_fVdRLXdlgmUUDii7kI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP231667.RACtFmSj9bJmng7vUXxnbG3KW7_fVdRLXdlgmUUDii7kI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP231667.RACtFmSj9bJmng7vUXxnbG3KW7_fVdRLXdlgmUUDii7kI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP231667.RACtFmSj9bJmng7vUXxnbG3KW7_fVdRLXdlgmUUDii7kI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP231667.RACtFmSj9bJmng7vUXxnbG3KW7_fVdRLXdlgmUUDii7kI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP231667.RACtFmSj9bJmng7vUXxnbG3KW7_fVdRLXdlgmUUDii7kI http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP231667.RACtFmSj9bJmng7vUXxnbG3KW7_fVdRLXdlgmUUDii7kI http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0