@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:NP608539.RATCoNukCpv1AzvBaIMYOBL7izMFrAmutw0_6VOOoSmYk130_head { this: np:hasAssertion dgn-np:NP608539.RATCoNukCpv1AzvBaIMYOBL7izMFrAmutw0_6VOOoSmYk130_assertion; np:hasProvenance dgn-np:NP608539.RATCoNukCpv1AzvBaIMYOBL7izMFrAmutw0_6VOOoSmYk130_provenance; np:hasPublicationInfo dgn-np:NP608539.RATCoNukCpv1AzvBaIMYOBL7izMFrAmutw0_6VOOoSmYk130_publicationInfo; a np:Nanopublication . dgn-np:NP608539.RATCoNukCpv1AzvBaIMYOBL7izMFrAmutw0_6VOOoSmYk130_assertion a np:Assertion . dgn-np:NP608539.RATCoNukCpv1AzvBaIMYOBL7izMFrAmutw0_6VOOoSmYk130_provenance a np:Provenance . dgn-np:NP608539.RATCoNukCpv1AzvBaIMYOBL7izMFrAmutw0_6VOOoSmYk130_publicationInfo a np:PublicationInfo . } dgn-np:NP608539.RATCoNukCpv1AzvBaIMYOBL7izMFrAmutw0_6VOOoSmYk130_assertion { miriam-gene:6261 a ncit:C16612 . lld:C0030552 a ncit:C7057 . dgn-gda:DGNba8358f78fa1d466f027657d45b60116 sio:SIO_000628 miriam-gene:6261, lld:C0030552; a sio:SIO_001121 . } dgn-np:NP608539.RATCoNukCpv1AzvBaIMYOBL7izMFrAmutw0_6VOOoSmYk130_provenance { dgn-np:NP608539.RATCoNukCpv1AzvBaIMYOBL7izMFrAmutw0_6VOOoSmYk130_assertion dcterms:description "[Although a clinical overlap between patients with dominant and recessive RYR1 mutations exists, in most cases with recessive mutations the pattern of muscle weakness is remarkably different from that observed in dominant CCD.]. 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:17483490; 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:NP608539.RATCoNukCpv1AzvBaIMYOBL7izMFrAmutw0_6VOOoSmYk130_publicationInfo { this: dcterms:created "2016-05-13T12:46:21+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" . }