@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP970489.RAi2UbGzuFQr73OJA1akYyW_D98aoTn0vCsHSpb_QcIPo> .
@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/v4.0.0/void/> .

dgn-np:NP970489.RAi2UbGzuFQr73OJA1akYyW_D98aoTn0vCsHSpb_QcIPo130_head {
  this: np:hasAssertion dgn-np:NP970489.RAi2UbGzuFQr73OJA1akYyW_D98aoTn0vCsHSpb_QcIPo130_assertion;
    np:hasProvenance dgn-np:NP970489.RAi2UbGzuFQr73OJA1akYyW_D98aoTn0vCsHSpb_QcIPo130_provenance;
    np:hasPublicationInfo dgn-np:NP970489.RAi2UbGzuFQr73OJA1akYyW_D98aoTn0vCsHSpb_QcIPo130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP970489.RAi2UbGzuFQr73OJA1akYyW_D98aoTn0vCsHSpb_QcIPo130_assertion a np:Assertion .
  
  dgn-np:NP970489.RAi2UbGzuFQr73OJA1akYyW_D98aoTn0vCsHSpb_QcIPo130_provenance a np:Provenance .
  
  dgn-np:NP970489.RAi2UbGzuFQr73OJA1akYyW_D98aoTn0vCsHSpb_QcIPo130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP970489.RAi2UbGzuFQr73OJA1akYyW_D98aoTn0vCsHSpb_QcIPo130_assertion {
  miriam-gene:326 a ncit:C16612 .
  
  lld:C3494489 a ncit:C7057 .
  
  dgn-gda:DGN3442be1a9b95e9ac63494fbf38d4a7bc sio:SIO_000628 miriam-gene:326, lld:C3494489;
    a sio:SIO_001121 .
}

dgn-np:NP970489.RAi2UbGzuFQr73OJA1akYyW_D98aoTn0vCsHSpb_QcIPo130_provenance {
  dgn-np:NP970489.RAi2UbGzuFQr73OJA1akYyW_D98aoTn0vCsHSpb_QcIPo130_assertion dcterms:description
      "[Aims of the present study are: 1) to report an additional Sicilian patient with autoimmune polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED), whose genotypic features are original, in that she is the first APECED patient with three coexisting mutations of Autoimmune Regulator (AIRE) gene, two of which had never been reported to date; 2) to review the genotypic epidemiology of APECED in Italy, in order to underline the great genetic heterogeneity of this disorder in Italian patients.]. 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:22450362;
    prov:wasDerivedFrom dgn-void:befree-2016;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP970489.RAi2UbGzuFQr73OJA1akYyW_D98aoTn0vCsHSpb_QcIPo130_publicationInfo {
  this: dcterms:created "2016-05-13T12:49:04+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 "v4.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v4.0.0" .
}