@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP398282.RAuqL2DzgQyYqlNVM-fHXDSGYjtdy1XPunGgR7xZNjLTc> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .
@prefix sio: <http://semanticscience.org/resource/> .
@prefix ncit: <http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#> .
@prefix lld: <http://linkedlifedata.com/resource/umls/id/> .
@prefix miriam-gene: <http://identifiers.org/ncbigene/> .
@prefix miriam-pubmed: <http://identifiers.org/pubmed/> .
@prefix eco: <http://purl.obolibrary.org/obo/> .
@prefix wi: <http://purl.org/ontology/wi/core#> .
@prefix prov: <http://www.w3.org/ns/prov#> .
@prefix pav: <http://purl.org/pav/> .
@prefix prv: <http://purl.org/net/provenance/ns#> .
@prefix dcterms: <http://purl.org/dc/terms/> .
@prefix np: <http://www.nanopub.org/nschema#> .
@prefix dgn-np: <http://rdf.disgenet.org/resource/nanopub/> .
@prefix dgn-gda: <http://rdf.disgenet.org/resource/gda/> .
@prefix dgn-void: <http://rdf.disgenet.org/v4.0.0/void/> .

dgn-np:NP398282.RAuqL2DzgQyYqlNVM-fHXDSGYjtdy1XPunGgR7xZNjLTc130_head {
  this: np:hasAssertion dgn-np:NP398282.RAuqL2DzgQyYqlNVM-fHXDSGYjtdy1XPunGgR7xZNjLTc130_assertion;
    np:hasProvenance dgn-np:NP398282.RAuqL2DzgQyYqlNVM-fHXDSGYjtdy1XPunGgR7xZNjLTc130_provenance;
    np:hasPublicationInfo dgn-np:NP398282.RAuqL2DzgQyYqlNVM-fHXDSGYjtdy1XPunGgR7xZNjLTc130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP398282.RAuqL2DzgQyYqlNVM-fHXDSGYjtdy1XPunGgR7xZNjLTc130_assertion a np:Assertion .
  
  dgn-np:NP398282.RAuqL2DzgQyYqlNVM-fHXDSGYjtdy1XPunGgR7xZNjLTc130_provenance a np:Provenance .
  
  dgn-np:NP398282.RAuqL2DzgQyYqlNVM-fHXDSGYjtdy1XPunGgR7xZNjLTc130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP398282.RAuqL2DzgQyYqlNVM-fHXDSGYjtdy1XPunGgR7xZNjLTc130_assertion {
  miriam-gene:6261 a ncit:C16612 .
  
  lld:C0751951 a ncit:C7057 .
  
  dgn-gda:DGNed218b5dc32e12002ea78014e656c86b sio:SIO_000628 miriam-gene:6261, lld:C0751951;
    a sio:SIO_001122 .
}

dgn-np:NP398282.RAuqL2DzgQyYqlNVM-fHXDSGYjtdy1XPunGgR7xZNjLTc130_provenance {
  dgn-np:NP398282.RAuqL2DzgQyYqlNVM-fHXDSGYjtdy1XPunGgR7xZNjLTc130_assertion dcterms:description
      "[The reduction of EC(50) indicates a facilitated calcium release from sarcoplasmic reticulum in the myotubes of the index patient suggesting that the RYR1 Ile2453Thr mutation is pathogenic for the malignant hyperthermia susceptibility and CCD of the two affected individuals.]. 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:12810058;
    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:NP398282.RAuqL2DzgQyYqlNVM-fHXDSGYjtdy1XPunGgR7xZNjLTc130_publicationInfo {
  this: dcterms:created "2016-05-13T12:44:46+02:00"^^xsd:dateTime;
    dcterms:rights <http://opendatacommons.org/licenses/odbl/1.0/>;
    dcterms:rightsHolder dgn-void:IBIGroup;
    dcterms:subject sio:SIO_000983;
    prv:usedData dgn-void:disgenetv3.0rdf;
    pav:authoredBy <http://orcid.org/0000-0001-5999-6269>, <http://orcid.org/0000-0002-7534-7661>,
      <http://orcid.org/0000-0002-9383-528X>, <http://orcid.org/0000-0003-0169-8159>, <http://orcid.org/0000-0003-1244-7654>;
    pav:createdBy <http://orcid.org/0000-0003-0169-8159>;
    pav:version "v4.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v4.0.0" .
}