@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP679855.RASybOXS4hBP2nq6iFUtIgwrOvRiole-kcwE4Hu_TT8qM> .
@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:NP679855.RASybOXS4hBP2nq6iFUtIgwrOvRiole-kcwE4Hu_TT8qM130_head {
  this: np:hasAssertion dgn-np:NP679855.RASybOXS4hBP2nq6iFUtIgwrOvRiole-kcwE4Hu_TT8qM130_assertion;
    np:hasProvenance dgn-np:NP679855.RASybOXS4hBP2nq6iFUtIgwrOvRiole-kcwE4Hu_TT8qM130_provenance;
    np:hasPublicationInfo dgn-np:NP679855.RASybOXS4hBP2nq6iFUtIgwrOvRiole-kcwE4Hu_TT8qM130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP679855.RASybOXS4hBP2nq6iFUtIgwrOvRiole-kcwE4Hu_TT8qM130_assertion a np:Assertion .
  
  dgn-np:NP679855.RASybOXS4hBP2nq6iFUtIgwrOvRiole-kcwE4Hu_TT8qM130_provenance a np:Provenance .
  
  dgn-np:NP679855.RASybOXS4hBP2nq6iFUtIgwrOvRiole-kcwE4Hu_TT8qM130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP679855.RASybOXS4hBP2nq6iFUtIgwrOvRiole-kcwE4Hu_TT8qM130_assertion {
  miriam-gene:171023 a ncit:C16612 .
  
  lld:C0162674 a ncit:C7057 .
  
  dgn-gda:DGN688d73cc051aeab6d42666ee7110a675 sio:SIO_000628 miriam-gene:171023, lld:C0162674;
    a sio:SIO_001121 .
}

dgn-np:NP679855.RASybOXS4hBP2nq6iFUtIgwrOvRiole-kcwE4Hu_TT8qM130_provenance {
  dgn-np:NP679855.RASybOXS4hBP2nq6iFUtIgwrOvRiole-kcwE4Hu_TT8qM130_assertion dcterms:description
      "[Although dominant Twinkle mutations have been previously reported in patients with autosomal dominant progressive external ophthalmoplegia and multiple mtDNA deletions, we report here the first recessive Twinkle mutation in patients with hepatocerebral form of MDS.]. 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:17722119;
    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:NP679855.RASybOXS4hBP2nq6iFUtIgwrOvRiole-kcwE4Hu_TT8qM130_publicationInfo {
  this: dcterms:created "2014-10-02T12:38:50+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" .
}