http://rdf.disgenet.org/resource/nanopub/NP256942.RA4zhrMQqO5dLJJ2d5av6WvbRgYPMhOz1Imo3oTo27R3c130_head http://rdf.disgenet.org/resource/nanopub/NP256942.RA4zhrMQqO5dLJJ2d5av6WvbRgYPMhOz1Imo3oTo27R3c http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP256942.RA4zhrMQqO5dLJJ2d5av6WvbRgYPMhOz1Imo3oTo27R3c130_assertion http://rdf.disgenet.org/resource/nanopub/NP256942.RA4zhrMQqO5dLJJ2d5av6WvbRgYPMhOz1Imo3oTo27R3c http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP256942.RA4zhrMQqO5dLJJ2d5av6WvbRgYPMhOz1Imo3oTo27R3c130_provenance http://rdf.disgenet.org/resource/nanopub/NP256942.RA4zhrMQqO5dLJJ2d5av6WvbRgYPMhOz1Imo3oTo27R3c http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP256942.RA4zhrMQqO5dLJJ2d5av6WvbRgYPMhOz1Imo3oTo27R3c130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP256942.RA4zhrMQqO5dLJJ2d5av6WvbRgYPMhOz1Imo3oTo27R3c http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP256942.RA4zhrMQqO5dLJJ2d5av6WvbRgYPMhOz1Imo3oTo27R3c130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP256942.RA4zhrMQqO5dLJJ2d5av6WvbRgYPMhOz1Imo3oTo27R3c130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP256942.RA4zhrMQqO5dLJJ2d5av6WvbRgYPMhOz1Imo3oTo27R3c130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP256942.RA4zhrMQqO5dLJJ2d5av6WvbRgYPMhOz1Imo3oTo27R3c130_assertion http://identifiers.org/ncbigene/535 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/C0010068 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/DGN5a5e50bbc4d8dc833fac7d5a730d1f74 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/535 http://rdf.disgenet.org/resource/gda/DGN5a5e50bbc4d8dc833fac7d5a730d1f74 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0010068 http://rdf.disgenet.org/resource/gda/DGN5a5e50bbc4d8dc833fac7d5a730d1f74 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP256942.RA4zhrMQqO5dLJJ2d5av6WvbRgYPMhOz1Imo3oTo27R3c130_provenance http://rdf.disgenet.org/resource/nanopub/NP256942.RA4zhrMQqO5dLJJ2d5av6WvbRgYPMhOz1Imo3oTo27R3c130_assertion http://purl.org/dc/terms/description [This polymorphism is situated between the transcriptional starting site and the signal peptide start coding site (intron 1), so may influence the efficiency of surrounding splicing, thereby interfering with the expression of the apo A-I gene product, or serve as a linkage marker with a hitherto unidentified mutation defect responsible for hyperlipidemia and/or premature coronary heart disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP256942.RA4zhrMQqO5dLJJ2d5av6WvbRgYPMhOz1Imo3oTo27R3c130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP256942.RA4zhrMQqO5dLJJ2d5av6WvbRgYPMhOz1Imo3oTo27R3c130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/8934336 http://rdf.disgenet.org/resource/nanopub/NP256942.RA4zhrMQqO5dLJJ2d5av6WvbRgYPMhOz1Imo3oTo27R3c130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP256942.RA4zhrMQqO5dLJJ2d5av6WvbRgYPMhOz1Imo3oTo27R3c130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP256942.RA4zhrMQqO5dLJJ2d5av6WvbRgYPMhOz1Imo3oTo27R3c130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP256942.RA4zhrMQqO5dLJJ2d5av6WvbRgYPMhOz1Imo3oTo27R3c http://purl.org/dc/terms/created 2015-08-25T14:40:06+02:00 http://rdf.disgenet.org/resource/nanopub/NP256942.RA4zhrMQqO5dLJJ2d5av6WvbRgYPMhOz1Imo3oTo27R3c http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP256942.RA4zhrMQqO5dLJJ2d5av6WvbRgYPMhOz1Imo3oTo27R3c http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP256942.RA4zhrMQqO5dLJJ2d5av6WvbRgYPMhOz1Imo3oTo27R3c http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP256942.RA4zhrMQqO5dLJJ2d5av6WvbRgYPMhOz1Imo3oTo27R3c http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP256942.RA4zhrMQqO5dLJJ2d5av6WvbRgYPMhOz1Imo3oTo27R3c http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP256942.RA4zhrMQqO5dLJJ2d5av6WvbRgYPMhOz1Imo3oTo27R3c http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP256942.RA4zhrMQqO5dLJJ2d5av6WvbRgYPMhOz1Imo3oTo27R3c http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP256942.RA4zhrMQqO5dLJJ2d5av6WvbRgYPMhOz1Imo3oTo27R3c http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP256942.RA4zhrMQqO5dLJJ2d5av6WvbRgYPMhOz1Imo3oTo27R3c http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP256942.RA4zhrMQqO5dLJJ2d5av6WvbRgYPMhOz1Imo3oTo27R3c http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP256942.RA4zhrMQqO5dLJJ2d5av6WvbRgYPMhOz1Imo3oTo27R3c http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0