http://rdf.disgenet.org/resource/nanopub/NP1026369.RAmgfuPRJNOvsP9OQkbgxaGUQr9jKwd3YEf4FkNkeqEJM130_head http://rdf.disgenet.org/resource/nanopub/NP1026369.RAmgfuPRJNOvsP9OQkbgxaGUQr9jKwd3YEf4FkNkeqEJM http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1026369.RAmgfuPRJNOvsP9OQkbgxaGUQr9jKwd3YEf4FkNkeqEJM130_assertion http://rdf.disgenet.org/resource/nanopub/NP1026369.RAmgfuPRJNOvsP9OQkbgxaGUQr9jKwd3YEf4FkNkeqEJM http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1026369.RAmgfuPRJNOvsP9OQkbgxaGUQr9jKwd3YEf4FkNkeqEJM130_provenance http://rdf.disgenet.org/resource/nanopub/NP1026369.RAmgfuPRJNOvsP9OQkbgxaGUQr9jKwd3YEf4FkNkeqEJM http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1026369.RAmgfuPRJNOvsP9OQkbgxaGUQr9jKwd3YEf4FkNkeqEJM130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1026369.RAmgfuPRJNOvsP9OQkbgxaGUQr9jKwd3YEf4FkNkeqEJM http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1026369.RAmgfuPRJNOvsP9OQkbgxaGUQr9jKwd3YEf4FkNkeqEJM130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1026369.RAmgfuPRJNOvsP9OQkbgxaGUQr9jKwd3YEf4FkNkeqEJM130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1026369.RAmgfuPRJNOvsP9OQkbgxaGUQr9jKwd3YEf4FkNkeqEJM130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1026369.RAmgfuPRJNOvsP9OQkbgxaGUQr9jKwd3YEf4FkNkeqEJM130_assertion http://identifiers.org/ncbigene/338 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/C0020445 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/resource/gda/DGNda9dc96c26311477979d1bc929b401c6 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/338 http://rdf.disgenet.org/resource/gda/DGNda9dc96c26311477979d1bc929b401c6 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0020445 http://rdf.disgenet.org/resource/gda/DGNda9dc96c26311477979d1bc929b401c6 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1026369.RAmgfuPRJNOvsP9OQkbgxaGUQr9jKwd3YEf4FkNkeqEJM130_provenance http://rdf.disgenet.org/resource/nanopub/NP1026369.RAmgfuPRJNOvsP9OQkbgxaGUQr9jKwd3YEf4FkNkeqEJM130_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/resource/nanopub/NP1026369.RAmgfuPRJNOvsP9OQkbgxaGUQr9jKwd3YEf4FkNkeqEJM130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP1026369.RAmgfuPRJNOvsP9OQkbgxaGUQr9jKwd3YEf4FkNkeqEJM130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23130880 http://rdf.disgenet.org/resource/nanopub/NP1026369.RAmgfuPRJNOvsP9OQkbgxaGUQr9jKwd3YEf4FkNkeqEJM130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1026369.RAmgfuPRJNOvsP9OQkbgxaGUQr9jKwd3YEf4FkNkeqEJM130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP1026369.RAmgfuPRJNOvsP9OQkbgxaGUQr9jKwd3YEf4FkNkeqEJM130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1026369.RAmgfuPRJNOvsP9OQkbgxaGUQr9jKwd3YEf4FkNkeqEJM http://purl.org/dc/terms/created 2016-05-13T12:49:31+02:00 http://rdf.disgenet.org/resource/nanopub/NP1026369.RAmgfuPRJNOvsP9OQkbgxaGUQr9jKwd3YEf4FkNkeqEJM http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1026369.RAmgfuPRJNOvsP9OQkbgxaGUQr9jKwd3YEf4FkNkeqEJM http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1026369.RAmgfuPRJNOvsP9OQkbgxaGUQr9jKwd3YEf4FkNkeqEJM http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1026369.RAmgfuPRJNOvsP9OQkbgxaGUQr9jKwd3YEf4FkNkeqEJM http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1026369.RAmgfuPRJNOvsP9OQkbgxaGUQr9jKwd3YEf4FkNkeqEJM http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1026369.RAmgfuPRJNOvsP9OQkbgxaGUQr9jKwd3YEf4FkNkeqEJM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1026369.RAmgfuPRJNOvsP9OQkbgxaGUQr9jKwd3YEf4FkNkeqEJM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1026369.RAmgfuPRJNOvsP9OQkbgxaGUQr9jKwd3YEf4FkNkeqEJM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1026369.RAmgfuPRJNOvsP9OQkbgxaGUQr9jKwd3YEf4FkNkeqEJM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1026369.RAmgfuPRJNOvsP9OQkbgxaGUQr9jKwd3YEf4FkNkeqEJM http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1026369.RAmgfuPRJNOvsP9OQkbgxaGUQr9jKwd3YEf4FkNkeqEJM http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0