@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1198796.RAzmhY_WWG4bAb2lsIEU_Cy0uAXS1i8eBXMSNLiBGLEsQ> .
@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:NP1198796.RAzmhY_WWG4bAb2lsIEU_Cy0uAXS1i8eBXMSNLiBGLEsQ130_head {
  this: np:hasAssertion dgn-np:NP1198796.RAzmhY_WWG4bAb2lsIEU_Cy0uAXS1i8eBXMSNLiBGLEsQ130_assertion;
    np:hasProvenance dgn-np:NP1198796.RAzmhY_WWG4bAb2lsIEU_Cy0uAXS1i8eBXMSNLiBGLEsQ130_provenance;
    np:hasPublicationInfo dgn-np:NP1198796.RAzmhY_WWG4bAb2lsIEU_Cy0uAXS1i8eBXMSNLiBGLEsQ130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1198796.RAzmhY_WWG4bAb2lsIEU_Cy0uAXS1i8eBXMSNLiBGLEsQ130_assertion a np:Assertion .
  
  dgn-np:NP1198796.RAzmhY_WWG4bAb2lsIEU_Cy0uAXS1i8eBXMSNLiBGLEsQ130_provenance a np:Provenance .
  
  dgn-np:NP1198796.RAzmhY_WWG4bAb2lsIEU_Cy0uAXS1i8eBXMSNLiBGLEsQ130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1198796.RAzmhY_WWG4bAb2lsIEU_Cy0uAXS1i8eBXMSNLiBGLEsQ130_assertion {
  miriam-gene:1120 a ncit:C16612 .
  
  lld:C0699743 a ncit:C7057 .
  
  dgn-gda:DGN2ca0ff56539e38020d014fb867deac52 sio:SIO_000628 miriam-gene:1120, lld:C0699743;
    a sio:SIO_001121 .
}

dgn-np:NP1198796.RAzmhY_WWG4bAb2lsIEU_Cy0uAXS1i8eBXMSNLiBGLEsQ130_provenance {
  dgn-np:NP1198796.RAzmhY_WWG4bAb2lsIEU_Cy0uAXS1i8eBXMSNLiBGLEsQ130_assertion dcterms:description
      "[Choline kinase beta gene (CHKB) mutations have been identified in Megaconial Congenital Muscular Dystrophy (MDCMC) patients, but never in patients with an additional combined deficiency of complexes I, III and IV and mitochondrial DNA (mtDNA) depletion.]. 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:24997086;
    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:NP1198796.RAzmhY_WWG4bAb2lsIEU_Cy0uAXS1i8eBXMSNLiBGLEsQ130_publicationInfo {
  this: dcterms:created "2016-05-13T12:50:49+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" .
}