http://rdf.disgenet.org/resource/nanopub/NP1114178.RAG3jSYO7Z8_7BVRRLbvIvIoxp0CI9aGtoyRbJrQOdr9E130_head
http://rdf.disgenet.org/resource/nanopub/NP1114178.RAG3jSYO7Z8_7BVRRLbvIvIoxp0CI9aGtoyRbJrQOdr9E
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1114178.RAG3jSYO7Z8_7BVRRLbvIvIoxp0CI9aGtoyRbJrQOdr9E130_assertion
http://rdf.disgenet.org/resource/nanopub/NP1114178.RAG3jSYO7Z8_7BVRRLbvIvIoxp0CI9aGtoyRbJrQOdr9E
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1114178.RAG3jSYO7Z8_7BVRRLbvIvIoxp0CI9aGtoyRbJrQOdr9E130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1114178.RAG3jSYO7Z8_7BVRRLbvIvIoxp0CI9aGtoyRbJrQOdr9E
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1114178.RAG3jSYO7Z8_7BVRRLbvIvIoxp0CI9aGtoyRbJrQOdr9E130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1114178.RAG3jSYO7Z8_7BVRRLbvIvIoxp0CI9aGtoyRbJrQOdr9E
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1114178.RAG3jSYO7Z8_7BVRRLbvIvIoxp0CI9aGtoyRbJrQOdr9E130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP1114178.RAG3jSYO7Z8_7BVRRLbvIvIoxp0CI9aGtoyRbJrQOdr9E130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP1114178.RAG3jSYO7Z8_7BVRRLbvIvIoxp0CI9aGtoyRbJrQOdr9E130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1114178.RAG3jSYO7Z8_7BVRRLbvIvIoxp0CI9aGtoyRbJrQOdr9E130_assertion
http://identifiers.org/ncbigene/3988
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/C0007222
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/DGN7c263613ae0c9d3c476fd63f4459235e
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/3988
http://rdf.disgenet.org/resource/gda/DGN7c263613ae0c9d3c476fd63f4459235e
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0007222
http://rdf.disgenet.org/resource/gda/DGN7c263613ae0c9d3c476fd63f4459235e
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP1114178.RAG3jSYO7Z8_7BVRRLbvIvIoxp0CI9aGtoyRbJrQOdr9E130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1114178.RAG3jSYO7Z8_7BVRRLbvIvIoxp0CI9aGtoyRbJrQOdr9E130_assertion
http://purl.org/dc/terms/description
[By integrating observations from Mendelian and population genetics along with directed clinical phenotyping, we diagnosed clinically unapparent cholesterol ester storage disease in the affected individuals from this kindred and addressed an outstanding question about risk of cardiovascular disease in LIPA E8SJM heterozygous carriers.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP1114178.RAG3jSYO7Z8_7BVRRLbvIvIoxp0CI9aGtoyRbJrQOdr9E130_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/NP1114178.RAG3jSYO7Z8_7BVRRLbvIvIoxp0CI9aGtoyRbJrQOdr9E130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/24072694
http://rdf.disgenet.org/resource/nanopub/NP1114178.RAG3jSYO7Z8_7BVRRLbvIvIoxp0CI9aGtoyRbJrQOdr9E130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://rdf.disgenet.org/resource/nanopub/NP1114178.RAG3jSYO7Z8_7BVRRLbvIvIoxp0CI9aGtoyRbJrQOdr9E130_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/NP1114178.RAG3jSYO7Z8_7BVRRLbvIvIoxp0CI9aGtoyRbJrQOdr9E130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1114178.RAG3jSYO7Z8_7BVRRLbvIvIoxp0CI9aGtoyRbJrQOdr9E
http://purl.org/dc/terms/created
2016-05-13T12:50:11+02:00
http://rdf.disgenet.org/resource/nanopub/NP1114178.RAG3jSYO7Z8_7BVRRLbvIvIoxp0CI9aGtoyRbJrQOdr9E
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1114178.RAG3jSYO7Z8_7BVRRLbvIvIoxp0CI9aGtoyRbJrQOdr9E
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v4.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1114178.RAG3jSYO7Z8_7BVRRLbvIvIoxp0CI9aGtoyRbJrQOdr9E
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1114178.RAG3jSYO7Z8_7BVRRLbvIvIoxp0CI9aGtoyRbJrQOdr9E
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1114178.RAG3jSYO7Z8_7BVRRLbvIvIoxp0CI9aGtoyRbJrQOdr9E
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1114178.RAG3jSYO7Z8_7BVRRLbvIvIoxp0CI9aGtoyRbJrQOdr9E
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1114178.RAG3jSYO7Z8_7BVRRLbvIvIoxp0CI9aGtoyRbJrQOdr9E
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1114178.RAG3jSYO7Z8_7BVRRLbvIvIoxp0CI9aGtoyRbJrQOdr9E
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1114178.RAG3jSYO7Z8_7BVRRLbvIvIoxp0CI9aGtoyRbJrQOdr9E
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1114178.RAG3jSYO7Z8_7BVRRLbvIvIoxp0CI9aGtoyRbJrQOdr9E
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1114178.RAG3jSYO7Z8_7BVRRLbvIvIoxp0CI9aGtoyRbJrQOdr9E
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