@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP271330.RAZ53TLmfSVrKNg3iEqXOH01cZqOWKuEbTi_FFrNQzwBQ> .
@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:NP271330.RAZ53TLmfSVrKNg3iEqXOH01cZqOWKuEbTi_FFrNQzwBQ130_head {
  this: np:hasAssertion dgn-np:NP271330.RAZ53TLmfSVrKNg3iEqXOH01cZqOWKuEbTi_FFrNQzwBQ130_assertion;
    np:hasProvenance dgn-np:NP271330.RAZ53TLmfSVrKNg3iEqXOH01cZqOWKuEbTi_FFrNQzwBQ130_provenance;
    np:hasPublicationInfo dgn-np:NP271330.RAZ53TLmfSVrKNg3iEqXOH01cZqOWKuEbTi_FFrNQzwBQ130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP271330.RAZ53TLmfSVrKNg3iEqXOH01cZqOWKuEbTi_FFrNQzwBQ130_assertion a np:Assertion .
  
  dgn-np:NP271330.RAZ53TLmfSVrKNg3iEqXOH01cZqOWKuEbTi_FFrNQzwBQ130_provenance a np:Provenance .
  
  dgn-np:NP271330.RAZ53TLmfSVrKNg3iEqXOH01cZqOWKuEbTi_FFrNQzwBQ130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP271330.RAZ53TLmfSVrKNg3iEqXOH01cZqOWKuEbTi_FFrNQzwBQ130_assertion {
  miriam-gene:472 a ncit:C16612 .
  
  lld:C0393593 a ncit:C7057 .
  
  dgn-gda:DGN1c4a2c6f104aa0d6a9e0515a6fc5e95d sio:SIO_000628 miriam-gene:472, lld:C0393593;
    a sio:SIO_001121 .
}

dgn-np:NP271330.RAZ53TLmfSVrKNg3iEqXOH01cZqOWKuEbTi_FFrNQzwBQ130_provenance {
  dgn-np:NP271330.RAZ53TLmfSVrKNg3iEqXOH01cZqOWKuEbTi_FFrNQzwBQ130_assertion dcterms:description
      "[Biallelic mutations in ATM can cause DRD, and mutations in this gene should be considered in the differential diagnosis of unexplained DRD, particularly if the dystonia is cervical and if there is a recessive family history.]. 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:23946315;
    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:NP271330.RAZ53TLmfSVrKNg3iEqXOH01cZqOWKuEbTi_FFrNQzwBQ130_publicationInfo {
  this: dcterms:created "2014-10-02T12:34:31+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" .
}