@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:NP677496.RANJCqT0iyPWUAaN-BUnmOmKj85PZM1XLvexnK9BLatig130_head { this: np:hasAssertion dgn-np:NP677496.RANJCqT0iyPWUAaN-BUnmOmKj85PZM1XLvexnK9BLatig130_assertion; np:hasProvenance dgn-np:NP677496.RANJCqT0iyPWUAaN-BUnmOmKj85PZM1XLvexnK9BLatig130_provenance; np:hasPublicationInfo dgn-np:NP677496.RANJCqT0iyPWUAaN-BUnmOmKj85PZM1XLvexnK9BLatig130_publicationInfo; a np:Nanopublication . dgn-np:NP677496.RANJCqT0iyPWUAaN-BUnmOmKj85PZM1XLvexnK9BLatig130_assertion a np:Assertion . dgn-np:NP677496.RANJCqT0iyPWUAaN-BUnmOmKj85PZM1XLvexnK9BLatig130_provenance a np:Provenance . dgn-np:NP677496.RANJCqT0iyPWUAaN-BUnmOmKj85PZM1XLvexnK9BLatig130_publicationInfo a np:PublicationInfo . } dgn-np:NP677496.RANJCqT0iyPWUAaN-BUnmOmKj85PZM1XLvexnK9BLatig130_assertion { miriam-gene:6261 a ncit:C16612 . lld:C0024591 a ncit:C7057 . dgn-gda:DGN5138d71782dd71b55e87a6007c8a12c3 sio:SIO_000628 miriam-gene:6261, lld:C0024591; a sio:SIO_001121 . } dgn-np:NP677496.RANJCqT0iyPWUAaN-BUnmOmKj85PZM1XLvexnK9BLatig130_provenance { dgn-np:NP677496.RANJCqT0iyPWUAaN-BUnmOmKj85PZM1XLvexnK9BLatig130_assertion dcterms:description "[That we only identified a genetic defect in RYR1 in 47% of in vitro contracture test positive individuals suggests that there are other areas in RYR1 where pathogenic mutations may occur and that RYR1 may not be the sole gene associated with malignant hyperthermia.]. 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:18564801; 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:NP677496.RANJCqT0iyPWUAaN-BUnmOmKj85PZM1XLvexnK9BLatig130_publicationInfo { this: dcterms:created "2016-05-13T12:46:52+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" . }