http://rdf.disgenet.org/resource/nanopub/NP640634.RAo-tL883yYoo1UZNA-pBtNrQilaxkVpcFX9ypWItaHNQ#head
http://rdf.disgenet.org/resource/nanopub/NP640634.RAo-tL883yYoo1UZNA-pBtNrQilaxkVpcFX9ypWItaHNQ
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP640634.RAo-tL883yYoo1UZNA-pBtNrQilaxkVpcFX9ypWItaHNQ#assertion
http://rdf.disgenet.org/resource/nanopub/NP640634.RAo-tL883yYoo1UZNA-pBtNrQilaxkVpcFX9ypWItaHNQ
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP640634.RAo-tL883yYoo1UZNA-pBtNrQilaxkVpcFX9ypWItaHNQ#provenance
http://rdf.disgenet.org/resource/nanopub/NP640634.RAo-tL883yYoo1UZNA-pBtNrQilaxkVpcFX9ypWItaHNQ
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP640634.RAo-tL883yYoo1UZNA-pBtNrQilaxkVpcFX9ypWItaHNQ#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP640634.RAo-tL883yYoo1UZNA-pBtNrQilaxkVpcFX9ypWItaHNQ
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP640634.RAo-tL883yYoo1UZNA-pBtNrQilaxkVpcFX9ypWItaHNQ#assertion
http://rdf.disgenet.org/resource/gda/DGN7c601c6f0542318bdea52e4ec510a3af
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/3949
http://rdf.disgenet.org/resource/gda/DGN7c601c6f0542318bdea52e4ec510a3af
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0745103
http://rdf.disgenet.org/resource/gda/DGN7c601c6f0542318bdea52e4ec510a3af
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP640634.RAo-tL883yYoo1UZNA-pBtNrQilaxkVpcFX9ypWItaHNQ#provenance
http://rdf.disgenet.org/resource/nanopub/NP640634.RAo-tL883yYoo1UZNA-pBtNrQilaxkVpcFX9ypWItaHNQ#assertion
http://purl.org/dc/terms/description
[It is interesting that this patient, eventhough harbouring two mutations on both alleles of the LDL receptor gene (presumably homozygous genotype of FH), apparently revealed lipid levels of heterozygous phenotype of FH without symptoms of coronary artery disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP640634.RAo-tL883yYoo1UZNA-pBtNrQilaxkVpcFX9ypWItaHNQ#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/NP640634.RAo-tL883yYoo1UZNA-pBtNrQilaxkVpcFX9ypWItaHNQ#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/12002911
http://rdf.disgenet.org/resource/nanopub/NP640634.RAo-tL883yYoo1UZNA-pBtNrQilaxkVpcFX9ypWItaHNQ#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP640634.RAo-tL883yYoo1UZNA-pBtNrQilaxkVpcFX9ypWItaHNQ#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/NP640634.RAo-tL883yYoo1UZNA-pBtNrQilaxkVpcFX9ypWItaHNQ#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP640634.RAo-tL883yYoo1UZNA-pBtNrQilaxkVpcFX9ypWItaHNQ
http://purl.org/dc/terms/created
2017-10-17T13:14:16+02:00
http://rdf.disgenet.org/resource/nanopub/NP640634.RAo-tL883yYoo1UZNA-pBtNrQilaxkVpcFX9ypWItaHNQ
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP640634.RAo-tL883yYoo1UZNA-pBtNrQilaxkVpcFX9ypWItaHNQ
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP640634.RAo-tL883yYoo1UZNA-pBtNrQilaxkVpcFX9ypWItaHNQ
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP640634.RAo-tL883yYoo1UZNA-pBtNrQilaxkVpcFX9ypWItaHNQ
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP640634.RAo-tL883yYoo1UZNA-pBtNrQilaxkVpcFX9ypWItaHNQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP640634.RAo-tL883yYoo1UZNA-pBtNrQilaxkVpcFX9ypWItaHNQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP640634.RAo-tL883yYoo1UZNA-pBtNrQilaxkVpcFX9ypWItaHNQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP640634.RAo-tL883yYoo1UZNA-pBtNrQilaxkVpcFX9ypWItaHNQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP640634.RAo-tL883yYoo1UZNA-pBtNrQilaxkVpcFX9ypWItaHNQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP640634.RAo-tL883yYoo1UZNA-pBtNrQilaxkVpcFX9ypWItaHNQ
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP640634.RAo-tL883yYoo1UZNA-pBtNrQilaxkVpcFX9ypWItaHNQ
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