@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:NP555894.RA4dJNFUhcRMakEveRyNqZlm8IFu3-imuLCKslMDtTC6c130_head { this: np:hasAssertion dgn-np:NP555894.RA4dJNFUhcRMakEveRyNqZlm8IFu3-imuLCKslMDtTC6c130_assertion; np:hasProvenance dgn-np:NP555894.RA4dJNFUhcRMakEveRyNqZlm8IFu3-imuLCKslMDtTC6c130_provenance; np:hasPublicationInfo dgn-np:NP555894.RA4dJNFUhcRMakEveRyNqZlm8IFu3-imuLCKslMDtTC6c130_publicationInfo; a np:Nanopublication . dgn-np:NP555894.RA4dJNFUhcRMakEveRyNqZlm8IFu3-imuLCKslMDtTC6c130_assertion a np:Assertion . dgn-np:NP555894.RA4dJNFUhcRMakEveRyNqZlm8IFu3-imuLCKslMDtTC6c130_provenance a np:Provenance . dgn-np:NP555894.RA4dJNFUhcRMakEveRyNqZlm8IFu3-imuLCKslMDtTC6c130_publicationInfo a np:PublicationInfo . } dgn-np:NP555894.RA4dJNFUhcRMakEveRyNqZlm8IFu3-imuLCKslMDtTC6c130_assertion { miriam-gene:6261 a ncit:C16612 . lld:C0151786 a ncit:C7057 . dgn-gda:DGNdbc120a40e9a785f07bf6d726ea278f7 sio:SIO_000628 miriam-gene:6261, lld:C0151786; a sio:SIO_001121 . } dgn-np:NP555894.RA4dJNFUhcRMakEveRyNqZlm8IFu3-imuLCKslMDtTC6c130_provenance { dgn-np:NP555894.RA4dJNFUhcRMakEveRyNqZlm8IFu3-imuLCKslMDtTC6c130_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-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP555894.RA4dJNFUhcRMakEveRyNqZlm8IFu3-imuLCKslMDtTC6c130_publicationInfo { this: dcterms:created "2014-10-02T12:37:35+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }