@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP411442.RAI8N82eyRqFR10apUDpWbSOrCrHhD_pSoWMzvxC_BH2E> .
@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/v3.0.0/void/> .

dgn-np:NP411442.RAI8N82eyRqFR10apUDpWbSOrCrHhD_pSoWMzvxC_BH2E130_head {
  this: np:hasAssertion dgn-np:NP411442.RAI8N82eyRqFR10apUDpWbSOrCrHhD_pSoWMzvxC_BH2E130_assertion;
    np:hasProvenance dgn-np:NP411442.RAI8N82eyRqFR10apUDpWbSOrCrHhD_pSoWMzvxC_BH2E130_provenance;
    np:hasPublicationInfo dgn-np:NP411442.RAI8N82eyRqFR10apUDpWbSOrCrHhD_pSoWMzvxC_BH2E130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP411442.RAI8N82eyRqFR10apUDpWbSOrCrHhD_pSoWMzvxC_BH2E130_assertion a np:Assertion .
  
  dgn-np:NP411442.RAI8N82eyRqFR10apUDpWbSOrCrHhD_pSoWMzvxC_BH2E130_provenance a np:Provenance .
  
  dgn-np:NP411442.RAI8N82eyRqFR10apUDpWbSOrCrHhD_pSoWMzvxC_BH2E130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP411442.RAI8N82eyRqFR10apUDpWbSOrCrHhD_pSoWMzvxC_BH2E130_assertion {
  miriam-gene:2395 a ncit:C16612 .
  
  lld:C0151313 a ncit:C7057 .
  
  dgn-gda:DGNa835f783a4514c89dc22472dceeed48c sio:SIO_000628 miriam-gene:2395, lld:C0151313;
    a sio:SIO_001122 .
}

dgn-np:NP411442.RAI8N82eyRqFR10apUDpWbSOrCrHhD_pSoWMzvxC_BH2E130_provenance {
  dgn-np:NP411442.RAI8N82eyRqFR10apUDpWbSOrCrHhD_pSoWMzvxC_BH2E130_assertion dcterms:description
      "[We describe here a 41-year-old man with profound vision deficit and episodic complete blindness associated with marked optic atrophy, spastic paraparesis, and sensory neuropathy without ataxia whose diagnostic evaluation revealed compound heterozygosity for two frataxin mutations, a 994 GAA repeat intronic expansion and c.389G &gt; T (p.G130V) missense mutation.]. 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:20162437;
    prov:wasDerivedFrom dgn-void:befree-20150227;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP411442.RAI8N82eyRqFR10apUDpWbSOrCrHhD_pSoWMzvxC_BH2E130_publicationInfo {
  this: dcterms:created "2015-08-25T14:41:39+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 "v3.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v3.0.0" .
}