@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP220498.RAVNPlBu7Wy5zqvBODyJAn6ZqX1Ainn8tUl7LMqOscNpE> .
@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/eco.owl#> .
@prefix wi: <http://purl.org/ontology/wi/core#> .
@prefix prov: <http://www.w3.org/ns/prov#> .
@prefix pav: <http://purl.org/pav/2.0/> .
@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/nanopublications.trig#> .
@prefix dgn-gda: <http://rdf.disgenet.org/gene-disease-association.ttl#> .
@prefix dgn-void: <http://rdf.disgenet.org/v2.1.0/void.ttl#> .

dgn-np:NP220498.RAVNPlBu7Wy5zqvBODyJAn6ZqX1Ainn8tUl7LMqOscNpE130_head {
  this: np:hasAssertion dgn-np:NP220498.RAVNPlBu7Wy5zqvBODyJAn6ZqX1Ainn8tUl7LMqOscNpE130_assertion;
    np:hasProvenance dgn-np:NP220498.RAVNPlBu7Wy5zqvBODyJAn6ZqX1Ainn8tUl7LMqOscNpE130_provenance;
    np:hasPublicationInfo dgn-np:NP220498.RAVNPlBu7Wy5zqvBODyJAn6ZqX1Ainn8tUl7LMqOscNpE130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP220498.RAVNPlBu7Wy5zqvBODyJAn6ZqX1Ainn8tUl7LMqOscNpE130_assertion a np:Assertion .
  
  dgn-np:NP220498.RAVNPlBu7Wy5zqvBODyJAn6ZqX1Ainn8tUl7LMqOscNpE130_provenance a np:Provenance .
  
  dgn-np:NP220498.RAVNPlBu7Wy5zqvBODyJAn6ZqX1Ainn8tUl7LMqOscNpE130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP220498.RAVNPlBu7Wy5zqvBODyJAn6ZqX1Ainn8tUl7LMqOscNpE130_assertion {
  miriam-gene:57132 a ncit:C16612 .
  
  lld:C0751651 a ncit:C7057 .
  
  dgn-gda:DGN688662e64851538fdd8c91d630550731 sio:SIO_000628 miriam-gene:57132, lld:C0751651;
    a sio:SIO_001121 .
}

dgn-np:NP220498.RAVNPlBu7Wy5zqvBODyJAn6ZqX1Ainn8tUl7LMqOscNpE130_provenance {
  dgn-np:NP220498.RAVNPlBu7Wy5zqvBODyJAn6ZqX1Ainn8tUl7LMqOscNpE130_assertion dcterms:description
      "[Mutations in the nuclear-encoded mitochondrial maintenance gene RRM2B are an important cause of familial mitochondrial disease in both adults and children and represent the third most common cause of multiple mitochondrial DNA deletions in adults, following POLG [polymerase (DNA directed), gamma] and PEO1 (now called C10ORF2, encoding the Twinkle helicase) mutations.]. 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:23107649;
    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:NP220498.RAVNPlBu7Wy5zqvBODyJAn6ZqX1Ainn8tUl7LMqOscNpE130_publicationInfo {
  this: dcterms:created "2014-10-02T12:34:02+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:disgenetrdf;
    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 "v2.1.0.0" .
  
  dgn-void:disgenetrdf pav:version "v2.1.0" .
}