@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP883290.RA7Dy2UWDtNsKIGQ9DCDpRlQAb2TRWElVrqHBx4zJ6MFk> .
@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:NP883290.RA7Dy2UWDtNsKIGQ9DCDpRlQAb2TRWElVrqHBx4zJ6MFk130_head {
  this: np:hasAssertion dgn-np:NP883290.RA7Dy2UWDtNsKIGQ9DCDpRlQAb2TRWElVrqHBx4zJ6MFk130_assertion;
    np:hasProvenance dgn-np:NP883290.RA7Dy2UWDtNsKIGQ9DCDpRlQAb2TRWElVrqHBx4zJ6MFk130_provenance;
    np:hasPublicationInfo dgn-np:NP883290.RA7Dy2UWDtNsKIGQ9DCDpRlQAb2TRWElVrqHBx4zJ6MFk130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP883290.RA7Dy2UWDtNsKIGQ9DCDpRlQAb2TRWElVrqHBx4zJ6MFk130_assertion a np:Assertion .
  
  dgn-np:NP883290.RA7Dy2UWDtNsKIGQ9DCDpRlQAb2TRWElVrqHBx4zJ6MFk130_provenance a np:Provenance .
  
  dgn-np:NP883290.RA7Dy2UWDtNsKIGQ9DCDpRlQAb2TRWElVrqHBx4zJ6MFk130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP883290.RA7Dy2UWDtNsKIGQ9DCDpRlQAb2TRWElVrqHBx4zJ6MFk130_assertion {
  miriam-gene:54840 a ncit:C16612 .
  
  lld:C0007758 a ncit:C7057 .
  
  dgn-gda:DGNe2041959c2098328ba826fdd35ec1662 sio:SIO_000628 miriam-gene:54840, lld:C0007758;
    a sio:SIO_001121 .
}

dgn-np:NP883290.RA7Dy2UWDtNsKIGQ9DCDpRlQAb2TRWElVrqHBx4zJ6MFk130_provenance {
  dgn-np:NP883290.RA7Dy2UWDtNsKIGQ9DCDpRlQAb2TRWElVrqHBx4zJ6MFk130_assertion dcterms:description
      "[In the present study, we sought to determine possible causative mutations in aprataxin gene (all exons and flanking intronic sequences) in 14 Greek patients with sporadic cerebellar ataxia all but one without GAA expansion in frataxin gene (1 patient was heterozygous).]. 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:19953284;
    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:NP883290.RA7Dy2UWDtNsKIGQ9DCDpRlQAb2TRWElVrqHBx4zJ6MFk130_publicationInfo {
  this: dcterms:created "2014-10-02T12:40:59+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" .
}