@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:NP1070373.RAnbWBwa4LT667sutxX1cAYo-HflCSRQVUszhW8z7uSRY130_head { this: np:hasAssertion dgn-np:NP1070373.RAnbWBwa4LT667sutxX1cAYo-HflCSRQVUszhW8z7uSRY130_assertion; np:hasProvenance dgn-np:NP1070373.RAnbWBwa4LT667sutxX1cAYo-HflCSRQVUszhW8z7uSRY130_provenance; np:hasPublicationInfo dgn-np:NP1070373.RAnbWBwa4LT667sutxX1cAYo-HflCSRQVUszhW8z7uSRY130_publicationInfo; a np:Nanopublication . dgn-np:NP1070373.RAnbWBwa4LT667sutxX1cAYo-HflCSRQVUszhW8z7uSRY130_assertion a np:Assertion . dgn-np:NP1070373.RAnbWBwa4LT667sutxX1cAYo-HflCSRQVUszhW8z7uSRY130_provenance a np:Provenance . dgn-np:NP1070373.RAnbWBwa4LT667sutxX1cAYo-HflCSRQVUszhW8z7uSRY130_publicationInfo a np:PublicationInfo . } dgn-np:NP1070373.RAnbWBwa4LT667sutxX1cAYo-HflCSRQVUszhW8z7uSRY130_assertion { miriam-gene:6262 a ncit:C16612 . lld:C1631597 a ncit:C7057 . dgn-gda:DGN40cee0682f52374382458bbbb69b106e sio:SIO_000628 miriam-gene:6262, lld:C1631597; a sio:SIO_001121 . } dgn-np:NP1070373.RAnbWBwa4LT667sutxX1cAYo-HflCSRQVUszhW8z7uSRY130_provenance { dgn-np:NP1070373.RAnbWBwa4LT667sutxX1cAYo-HflCSRQVUszhW8z7uSRY130_assertion dcterms:description "[The penetrance of CPVT phenotype was significantly higher in RYR2 mutation carriers, thus RYR2 gene screening in CPVT patients would be indispensable to prevent unexpected cardiac sudden death of young family members.]. 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:23595086; 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:NP1070373.RAnbWBwa4LT667sutxX1cAYo-HflCSRQVUszhW8z7uSRY130_publicationInfo { this: dcterms:created "2016-05-13T12:49:51+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" . }