@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP276145.RAb45qEVjZuY3PDPhO7S98pQTaMzGeRG3jIlRzViCkHBE> .
@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:NP276145.RAb45qEVjZuY3PDPhO7S98pQTaMzGeRG3jIlRzViCkHBE130_head {
  this: np:hasAssertion dgn-np:NP276145.RAb45qEVjZuY3PDPhO7S98pQTaMzGeRG3jIlRzViCkHBE130_assertion;
    np:hasProvenance dgn-np:NP276145.RAb45qEVjZuY3PDPhO7S98pQTaMzGeRG3jIlRzViCkHBE130_provenance;
    np:hasPublicationInfo dgn-np:NP276145.RAb45qEVjZuY3PDPhO7S98pQTaMzGeRG3jIlRzViCkHBE130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP276145.RAb45qEVjZuY3PDPhO7S98pQTaMzGeRG3jIlRzViCkHBE130_assertion a np:Assertion .
  
  dgn-np:NP276145.RAb45qEVjZuY3PDPhO7S98pQTaMzGeRG3jIlRzViCkHBE130_provenance a np:Provenance .
  
  dgn-np:NP276145.RAb45qEVjZuY3PDPhO7S98pQTaMzGeRG3jIlRzViCkHBE130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP276145.RAb45qEVjZuY3PDPhO7S98pQTaMzGeRG3jIlRzViCkHBE130_assertion {
  miriam-gene:2548 a ncit:C16612 .
  
  lld:C0750957 a ncit:C7057 .
  
  dgn-gda:DGN497b0948d393f6da9bfba8fd607ed2ec sio:SIO_000628 miriam-gene:2548, lld:C0750957;
    a sio:SIO_001121 .
}

dgn-np:NP276145.RAb45qEVjZuY3PDPhO7S98pQTaMzGeRG3jIlRzViCkHBE130_provenance {
  dgn-np:NP276145.RAb45qEVjZuY3PDPhO7S98pQTaMzGeRG3jIlRzViCkHBE130_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 > 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-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:NP276145.RAb45qEVjZuY3PDPhO7S98pQTaMzGeRG3jIlRzViCkHBE130_publicationInfo {
  this: dcterms:created "2014-10-02T12:34:35+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" .
}