@prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP1298439.RAoddIh_QnGFJbgk3n5m36T3uomWM0ahtXCkKqy9dMkdg130_head { this: np:hasAssertion dgn-np:NP1298439.RAoddIh_QnGFJbgk3n5m36T3uomWM0ahtXCkKqy9dMkdg130_assertion; np:hasProvenance dgn-np:NP1298439.RAoddIh_QnGFJbgk3n5m36T3uomWM0ahtXCkKqy9dMkdg130_provenance; np:hasPublicationInfo dgn-np:NP1298439.RAoddIh_QnGFJbgk3n5m36T3uomWM0ahtXCkKqy9dMkdg130_publicationInfo; a np:Nanopublication . dgn-np:NP1298439.RAoddIh_QnGFJbgk3n5m36T3uomWM0ahtXCkKqy9dMkdg130_assertion a np:Assertion . dgn-np:NP1298439.RAoddIh_QnGFJbgk3n5m36T3uomWM0ahtXCkKqy9dMkdg130_provenance a np:Provenance . dgn-np:NP1298439.RAoddIh_QnGFJbgk3n5m36T3uomWM0ahtXCkKqy9dMkdg130_publicationInfo a np:PublicationInfo . } dgn-np:NP1298439.RAoddIh_QnGFJbgk3n5m36T3uomWM0ahtXCkKqy9dMkdg130_assertion { miriam-gene:3949 a ncit:C16612 . lld:C0020443 a ncit:C7057 . dgn-gda:DGNeb3e94563490ccf2a19997099b362c6a sio:SIO_000628 miriam-gene:3949, lld:C0020443; a sio:SIO_001121 . } dgn-np:NP1298439.RAoddIh_QnGFJbgk3n5m36T3uomWM0ahtXCkKqy9dMkdg130_provenance { dgn-np:NP1298439.RAoddIh_QnGFJbgk3n5m36T3uomWM0ahtXCkKqy9dMkdg130_assertion dcterms:description "[The diagnosis of heterozygous familial hypercholesterolaemia in three rural South African communities in which hypercholesterolaemia is very prevalent could be confirmed by the measurement of low density lipoprotein (LDL) receptor activity in circulating lymphocytes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_literature; sio:SIO_000772 miriam-pubmed:2918524; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^xsd:date . dgn-void:source_evidence_literature a eco:ECO_0000212; rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en; rdfs:label "DisGeNET evidence - LITERATURE"@en . } dgn-np:NP1298439.RAoddIh_QnGFJbgk3n5m36T3uomWM0ahtXCkKqy9dMkdg130_publicationInfo { this: dcterms:created "2016-05-13T12:51:34+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }