@prefix orcid: <http://orcid.org/> .
@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP254956.RAlAhhY8spD1sN8FLMX6n6FYOpId6mW0pgseHyUDswjzI> .
@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:NP254956.RAlAhhY8spD1sN8FLMX6n6FYOpId6mW0pgseHyUDswjzI130_head {
  this: np:hasAssertion dgn-np:NP254956.RAlAhhY8spD1sN8FLMX6n6FYOpId6mW0pgseHyUDswjzI130_assertion;
    np:hasProvenance dgn-np:NP254956.RAlAhhY8spD1sN8FLMX6n6FYOpId6mW0pgseHyUDswjzI130_provenance;
    np:hasPublicationInfo dgn-np:NP254956.RAlAhhY8spD1sN8FLMX6n6FYOpId6mW0pgseHyUDswjzI130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP254956.RAlAhhY8spD1sN8FLMX6n6FYOpId6mW0pgseHyUDswjzI130_assertion a np:Assertion .
  
  dgn-np:NP254956.RAlAhhY8spD1sN8FLMX6n6FYOpId6mW0pgseHyUDswjzI130_provenance a np:Provenance .
  
  dgn-np:NP254956.RAlAhhY8spD1sN8FLMX6n6FYOpId6mW0pgseHyUDswjzI130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP254956.RAlAhhY8spD1sN8FLMX6n6FYOpId6mW0pgseHyUDswjzI130_assertion {
  miriam-gene:472 a ncit:C16612 .
  
  lld:C0004134 a ncit:C7057 .
  
  dgn-gda:DGN2b722d755d91aa4dbc05ddaf3ba75e9a sio:SIO_000628 miriam-gene:472, lld:C0004134;
    a sio:SIO_001121 .
}

dgn-np:NP254956.RAlAhhY8spD1sN8FLMX6n6FYOpId6mW0pgseHyUDswjzI130_provenance {
  dgn-np:NP254956.RAlAhhY8spD1sN8FLMX6n6FYOpId6mW0pgseHyUDswjzI130_assertion dcterms:description
      "[In order to define the clinical phenotype of patients homozygous (or compound heterozygotes) for other, milder mutations, we decided to search for ATM mutations in patients with either sporadic or familial idiopathic ataxia.]. 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:10460451;
    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:NP254956.RAlAhhY8spD1sN8FLMX6n6FYOpId6mW0pgseHyUDswjzI130_publicationInfo {
  this: dcterms:created "2015-08-25T14:40:05+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 orcid:0000-0001-5999-6269, orcid:0000-0002-7534-7661, orcid:0000-0002-9383-528X,
      orcid:0000-0003-0169-8159, orcid:0000-0003-1244-7654;
    pav:createdBy orcid:0000-0003-0169-8159;
    pav:version "v3.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v3.0.0" .
}