@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:NP532900.RAXC-E9MWYcSrK4RKFjHY0Wn0X6smKP_cqOTbmj3hmxow130_head { this: np:hasAssertion dgn-np:NP532900.RAXC-E9MWYcSrK4RKFjHY0Wn0X6smKP_cqOTbmj3hmxow130_assertion; np:hasProvenance dgn-np:NP532900.RAXC-E9MWYcSrK4RKFjHY0Wn0X6smKP_cqOTbmj3hmxow130_provenance; np:hasPublicationInfo dgn-np:NP532900.RAXC-E9MWYcSrK4RKFjHY0Wn0X6smKP_cqOTbmj3hmxow130_publicationInfo; a np:Nanopublication . dgn-np:NP532900.RAXC-E9MWYcSrK4RKFjHY0Wn0X6smKP_cqOTbmj3hmxow130_assertion a np:Assertion . dgn-np:NP532900.RAXC-E9MWYcSrK4RKFjHY0Wn0X6smKP_cqOTbmj3hmxow130_provenance a np:Provenance . dgn-np:NP532900.RAXC-E9MWYcSrK4RKFjHY0Wn0X6smKP_cqOTbmj3hmxow130_publicationInfo a np:PublicationInfo . } dgn-np:NP532900.RAXC-E9MWYcSrK4RKFjHY0Wn0X6smKP_cqOTbmj3hmxow130_assertion { miriam-gene:3784 a ncit:C16612 . lld:C0039070 a ncit:C7057 . dgn-gda:DGN7dc90aedaad9cc67bb1fc13d16ffec17 sio:SIO_000628 miriam-gene:3784, lld:C0039070; a sio:SIO_001122 . } dgn-np:NP532900.RAXC-E9MWYcSrK4RKFjHY0Wn0X6smKP_cqOTbmj3hmxow130_provenance { dgn-np:NP532900.RAXC-E9MWYcSrK4RKFjHY0Wn0X6smKP_cqOTbmj3hmxow130_assertion dcterms:description "[Although G269S in the KVLQT1 gene was detected in a female with known family history of syncope and sudden cardiac death, no other mutations were found in any of the 14 cases, and no other mutations was found in 200 controls.]. 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:16436635; 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:NP532900.RAXC-E9MWYcSrK4RKFjHY0Wn0X6smKP_cqOTbmj3hmxow130_publicationInfo { this: dcterms:created "2016-05-13T12:45:46+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" . }