@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1218470.RAAdmJHiHuk6SPPPaPIB-rGTvL3X-HNZqfb9NToVQ4d6I> .
@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:NP1218470.RAAdmJHiHuk6SPPPaPIB-rGTvL3X-HNZqfb9NToVQ4d6I130_head {
  this: np:hasAssertion dgn-np:NP1218470.RAAdmJHiHuk6SPPPaPIB-rGTvL3X-HNZqfb9NToVQ4d6I130_assertion;
    np:hasProvenance dgn-np:NP1218470.RAAdmJHiHuk6SPPPaPIB-rGTvL3X-HNZqfb9NToVQ4d6I130_provenance;
    np:hasPublicationInfo dgn-np:NP1218470.RAAdmJHiHuk6SPPPaPIB-rGTvL3X-HNZqfb9NToVQ4d6I130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1218470.RAAdmJHiHuk6SPPPaPIB-rGTvL3X-HNZqfb9NToVQ4d6I130_assertion a np:Assertion .
  
  dgn-np:NP1218470.RAAdmJHiHuk6SPPPaPIB-rGTvL3X-HNZqfb9NToVQ4d6I130_provenance a np:Provenance .
  
  dgn-np:NP1218470.RAAdmJHiHuk6SPPPaPIB-rGTvL3X-HNZqfb9NToVQ4d6I130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1218470.RAAdmJHiHuk6SPPPaPIB-rGTvL3X-HNZqfb9NToVQ4d6I130_assertion {
  miriam-gene:5428 a ncit:C16612 .
  
  lld:C3683791 a ncit:C7057 .
  
  dgn-gda:DGNcfd57274ae0a07ec364f013ab4531ccf sio:SIO_000628 miriam-gene:5428, lld:C3683791;
    a sio:SIO_001121 .
}

dgn-np:NP1218470.RAAdmJHiHuk6SPPPaPIB-rGTvL3X-HNZqfb9NToVQ4d6I130_provenance {
  dgn-np:NP1218470.RAAdmJHiHuk6SPPPaPIB-rGTvL3X-HNZqfb9NToVQ4d6I130_assertion dcterms:description
      "[We aim to describe the longitudinal clinical features and the treatment response of three unrelated patients with neurodegenerative parkinsonism, preceded by PEO and SANDO syndromes, who harbor POLG1 mutations, including two novel 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:25203713;
    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:NP1218470.RAAdmJHiHuk6SPPPaPIB-rGTvL3X-HNZqfb9NToVQ4d6I130_publicationInfo {
  this: dcterms:created "2016-05-13T12:50:58+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" .
}