@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:NP1266525.RA4fpofXwGRbEeUDM8lfopLaAaNDPu8cTGQYsqTHMEhHQ130_head { this: np:hasAssertion dgn-np:NP1266525.RA4fpofXwGRbEeUDM8lfopLaAaNDPu8cTGQYsqTHMEhHQ130_assertion; np:hasProvenance dgn-np:NP1266525.RA4fpofXwGRbEeUDM8lfopLaAaNDPu8cTGQYsqTHMEhHQ130_provenance; np:hasPublicationInfo dgn-np:NP1266525.RA4fpofXwGRbEeUDM8lfopLaAaNDPu8cTGQYsqTHMEhHQ130_publicationInfo; a np:Nanopublication . dgn-np:NP1266525.RA4fpofXwGRbEeUDM8lfopLaAaNDPu8cTGQYsqTHMEhHQ130_assertion a np:Assertion . dgn-np:NP1266525.RA4fpofXwGRbEeUDM8lfopLaAaNDPu8cTGQYsqTHMEhHQ130_provenance a np:Provenance . dgn-np:NP1266525.RA4fpofXwGRbEeUDM8lfopLaAaNDPu8cTGQYsqTHMEhHQ130_publicationInfo a np:PublicationInfo . } dgn-np:NP1266525.RA4fpofXwGRbEeUDM8lfopLaAaNDPu8cTGQYsqTHMEhHQ130_assertion { miriam-gene:3949 a ncit:C16612 . lld:C0020445 a ncit:C7057 . dgn-gda:DGN3ca93352c302f13d0255c5f48b6f6cfe sio:SIO_000628 miriam-gene:3949, lld:C0020445; a sio:SIO_001121 . } dgn-np:NP1266525.RA4fpofXwGRbEeUDM8lfopLaAaNDPu8cTGQYsqTHMEhHQ130_provenance { dgn-np:NP1266525.RA4fpofXwGRbEeUDM8lfopLaAaNDPu8cTGQYsqTHMEhHQ130_assertion dcterms:description "[Detection of a polymorphic Stu I site in the 5' region of the LDL receptor gene and association of both restriction fragment length polymorphism alleles with FH in Afrikaners, indicated the existence of at least two founder members for the disease in this population.]. 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:2572061; 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:NP1266525.RA4fpofXwGRbEeUDM8lfopLaAaNDPu8cTGQYsqTHMEhHQ130_publicationInfo { this: dcterms:created "2016-05-13T12:51:20+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" . }