@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:NP677117.RAq0UeoTNhHc4X7MzKcdIDD_QRdqxSQg0UanvVNdp8xjw130_head { this: np:hasAssertion dgn-np:NP677117.RAq0UeoTNhHc4X7MzKcdIDD_QRdqxSQg0UanvVNdp8xjw130_assertion; np:hasProvenance dgn-np:NP677117.RAq0UeoTNhHc4X7MzKcdIDD_QRdqxSQg0UanvVNdp8xjw130_provenance; np:hasPublicationInfo dgn-np:NP677117.RAq0UeoTNhHc4X7MzKcdIDD_QRdqxSQg0UanvVNdp8xjw130_publicationInfo; a np:Nanopublication . dgn-np:NP677117.RAq0UeoTNhHc4X7MzKcdIDD_QRdqxSQg0UanvVNdp8xjw130_assertion a np:Assertion . dgn-np:NP677117.RAq0UeoTNhHc4X7MzKcdIDD_QRdqxSQg0UanvVNdp8xjw130_provenance a np:Provenance . dgn-np:NP677117.RAq0UeoTNhHc4X7MzKcdIDD_QRdqxSQg0UanvVNdp8xjw130_publicationInfo a np:PublicationInfo . } dgn-np:NP677117.RAq0UeoTNhHc4X7MzKcdIDD_QRdqxSQg0UanvVNdp8xjw130_assertion { miriam-gene:6262 a ncit:C16612 . lld:C0751951 a ncit:C7057 . dgn-gda:DGN285971af65ba19a167d46f122f258d02 sio:SIO_000628 miriam-gene:6262, lld:C0751951; a sio:SIO_001121 . } dgn-np:NP677117.RAq0UeoTNhHc4X7MzKcdIDD_QRdqxSQg0UanvVNdp8xjw130_provenance { dgn-np:NP677117.RAq0UeoTNhHc4X7MzKcdIDD_QRdqxSQg0UanvVNdp8xjw130_assertion dcterms:description "[Several mutations in the genes encoding RyR1 and RyR2 have been identified in autosomal dominant diseases of skeletal and cardiac muscle, such as malignant hyperthermia (MH), central core disease (CCD), catecholaminergic polymorphic ventricular tachycardia (CPVT), and arrhythmogenic right ventricular dysplasia type 2 (ARVD2).]. 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:15336972; prov:wasDerivedFrom dgn-void:befree-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP677117.RAq0UeoTNhHc4X7MzKcdIDD_QRdqxSQg0UanvVNdp8xjw130_publicationInfo { this: dcterms:created "2015-08-25T14:44:28+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 "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }