@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP832742.RAftHbHJqi6JSVQHS8piuyaAasfQ_5AqSds1eCTNTDZsQ> .
@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:NP832742.RAftHbHJqi6JSVQHS8piuyaAasfQ_5AqSds1eCTNTDZsQ130_head {
  this: np:hasAssertion dgn-np:NP832742.RAftHbHJqi6JSVQHS8piuyaAasfQ_5AqSds1eCTNTDZsQ130_assertion;
    np:hasProvenance dgn-np:NP832742.RAftHbHJqi6JSVQHS8piuyaAasfQ_5AqSds1eCTNTDZsQ130_provenance;
    np:hasPublicationInfo dgn-np:NP832742.RAftHbHJqi6JSVQHS8piuyaAasfQ_5AqSds1eCTNTDZsQ130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP832742.RAftHbHJqi6JSVQHS8piuyaAasfQ_5AqSds1eCTNTDZsQ130_assertion a np:Assertion .
  
  dgn-np:NP832742.RAftHbHJqi6JSVQHS8piuyaAasfQ_5AqSds1eCTNTDZsQ130_provenance a np:Provenance .
  
  dgn-np:NP832742.RAftHbHJqi6JSVQHS8piuyaAasfQ_5AqSds1eCTNTDZsQ130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP832742.RAftHbHJqi6JSVQHS8piuyaAasfQ_5AqSds1eCTNTDZsQ130_assertion {
  miriam-gene:55367 a ncit:C16612 .
  
  lld:C0029443 a ncit:C7057 .
  
  dgn-gda:DGN1d1483cc71c98412c85a82a2228b77b0 sio:SIO_000628 miriam-gene:55367, lld:C0029443;
    a sio:SIO_001121 .
}

dgn-np:NP832742.RAftHbHJqi6JSVQHS8piuyaAasfQ_5AqSds1eCTNTDZsQ130_provenance {
  dgn-np:NP832742.RAftHbHJqi6JSVQHS8piuyaAasfQ_5AqSds1eCTNTDZsQ130_assertion dcterms:description
      "[Of the 175 Taiwanese PIDD patients during a 28-year period, three patients from two unrelated families were identified with the hotspot INFRG1 deletion mutation (818del4) and had CGD features, presenting as cutaneous granuloma, and multiple osteomyelitis infected by non-tuberculosis mycobacteria, Mycobacteria avium complex and Mycobacterium scrofulaceum.]. 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:18972195;
    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:NP832742.RAftHbHJqi6JSVQHS8piuyaAasfQ_5AqSds1eCTNTDZsQ130_publicationInfo {
  this: dcterms:created "2014-10-02T12:40:29+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" .
}