@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP622904.RAgN6zSBRTB7knNLrwvZrUireyXEXLYc4tlWzasmGvLVA> .
@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:NP622904.RAgN6zSBRTB7knNLrwvZrUireyXEXLYc4tlWzasmGvLVA130_head {
  this: np:hasAssertion dgn-np:NP622904.RAgN6zSBRTB7knNLrwvZrUireyXEXLYc4tlWzasmGvLVA130_assertion;
    np:hasProvenance dgn-np:NP622904.RAgN6zSBRTB7knNLrwvZrUireyXEXLYc4tlWzasmGvLVA130_provenance;
    np:hasPublicationInfo dgn-np:NP622904.RAgN6zSBRTB7knNLrwvZrUireyXEXLYc4tlWzasmGvLVA130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP622904.RAgN6zSBRTB7knNLrwvZrUireyXEXLYc4tlWzasmGvLVA130_assertion a np:Assertion .
  
  dgn-np:NP622904.RAgN6zSBRTB7knNLrwvZrUireyXEXLYc4tlWzasmGvLVA130_provenance a np:Provenance .
  
  dgn-np:NP622904.RAgN6zSBRTB7knNLrwvZrUireyXEXLYc4tlWzasmGvLVA130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP622904.RAgN6zSBRTB7knNLrwvZrUireyXEXLYc4tlWzasmGvLVA130_assertion {
  miriam-gene:56652 a ncit:C16612 .
  
  lld:C0234366 a ncit:C7057 .
  
  dgn-gda:DGNdf85a6ffa625c4f8264266a66d2389a2 sio:SIO_000628 miriam-gene:56652, lld:C0234366;
    a sio:SIO_001121 .
}

dgn-np:NP622904.RAgN6zSBRTB7knNLrwvZrUireyXEXLYc4tlWzasmGvLVA130_provenance {
  dgn-np:NP622904.RAgN6zSBRTB7knNLrwvZrUireyXEXLYc4tlWzasmGvLVA130_assertion dcterms:description
      "[To illustrate this, we present a case of progressive ataxia caused by A467T and W748S mutations of POLG gene, who presented with overlapping symptoms of autosomal recessive mitochondrial ataxic syndrome and SANDO, as well as choreoathetotic movements and dysphonia.]. 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:22931735;
    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:NP622904.RAgN6zSBRTB7knNLrwvZrUireyXEXLYc4tlWzasmGvLVA130_publicationInfo {
  this: dcterms:created "2014-10-02T12:38:16+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" .
}