@prefix dct: . @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 np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP2234.RAIjMoHmYYENr8t2HvW90xrZIZZb6tYdDoyjvkLKpcd4s130_head { this: np:hasAssertion dgn-np:NP2234.RAIjMoHmYYENr8t2HvW90xrZIZZb6tYdDoyjvkLKpcd4s130_assertion; np:hasProvenance dgn-np:NP2234.RAIjMoHmYYENr8t2HvW90xrZIZZb6tYdDoyjvkLKpcd4s130_provenance; np:hasPublicationInfo dgn-np:NP2234.RAIjMoHmYYENr8t2HvW90xrZIZZb6tYdDoyjvkLKpcd4s130_publicationInfo; a np:Nanopublication . dgn-np:NP2234.RAIjMoHmYYENr8t2HvW90xrZIZZb6tYdDoyjvkLKpcd4s130_assertion a np:Assertion . dgn-np:NP2234.RAIjMoHmYYENr8t2HvW90xrZIZZb6tYdDoyjvkLKpcd4s130_provenance a np:Provenance . dgn-np:NP2234.RAIjMoHmYYENr8t2HvW90xrZIZZb6tYdDoyjvkLKpcd4s130_publicationInfo a np:PublicationInfo . } dgn-np:NP2234.RAIjMoHmYYENr8t2HvW90xrZIZZb6tYdDoyjvkLKpcd4s130_assertion { miriam-gene:6261 a ncit:C16612 . lld:C0751951 a ncit:C7057 . dgn-gda:DGN2d8164517f046801c2ac9d6c7689ae70 sio:SIO_000628 miriam-gene:6261, lld:C0751951; a sio:SIO_001122 . } dgn-np:NP2234.RAIjMoHmYYENr8t2HvW90xrZIZZb6tYdDoyjvkLKpcd4s130_provenance { dgn-np:NP2234.RAIjMoHmYYENr8t2HvW90xrZIZZb6tYdDoyjvkLKpcd4s130_assertion dct:description "[These results indicate that the C-terminal region of RYR1 represents an additional hot spot for mutations in patients with MH, similar to what has been reported for patients with CCD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_curated; sio:SIO_000772 miriam-pubmed:12208234; prov:wasDerivedFrom dgn-void:uniprot-2016; prov:wasGeneratedBy eco:ECO_0000218 . dgn-void:source_evidence_curated a eco:ECO_0000205; rdfs:comment "Gene-disease associations manually curated."@en; rdfs:label "DisGeNET evidence - CURATED"@en . dgn-void:uniprot-2016 pav:importedOn "2016-01-25"^^xsd:date . } dgn-np:NP2234.RAIjMoHmYYENr8t2HvW90xrZIZZb6tYdDoyjvkLKpcd4s130_publicationInfo { this: dct:created "2016-05-13T12:41:51+02:00"^^xsd:dateTime; dct:rights ; dct:rightsHolder dgn-void:IBIGroup; dct: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" . }