@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP213295.RA74izOacqTY60vOAGhOvTG5w1asNDTUxDI3QrhWFa-J8> .
@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:NP213295.RA74izOacqTY60vOAGhOvTG5w1asNDTUxDI3QrhWFa-J8130_head {
  this: np:hasAssertion dgn-np:NP213295.RA74izOacqTY60vOAGhOvTG5w1asNDTUxDI3QrhWFa-J8130_assertion;
    np:hasProvenance dgn-np:NP213295.RA74izOacqTY60vOAGhOvTG5w1asNDTUxDI3QrhWFa-J8130_provenance;
    np:hasPublicationInfo dgn-np:NP213295.RA74izOacqTY60vOAGhOvTG5w1asNDTUxDI3QrhWFa-J8130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP213295.RA74izOacqTY60vOAGhOvTG5w1asNDTUxDI3QrhWFa-J8130_assertion a np:Assertion .
  
  dgn-np:NP213295.RA74izOacqTY60vOAGhOvTG5w1asNDTUxDI3QrhWFa-J8130_provenance a np:Provenance .
  
  dgn-np:NP213295.RA74izOacqTY60vOAGhOvTG5w1asNDTUxDI3QrhWFa-J8130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP213295.RA74izOacqTY60vOAGhOvTG5w1asNDTUxDI3QrhWFa-J8130_assertion {
  miriam-gene:7852 a ncit:C16612 .
  
  lld:C1846064 a ncit:C7057 .
  
  dgn-gda:DGNedbb321a9655990a323e4df7d03e0540 sio:SIO_000628 miriam-gene:7852, lld:C1846064;
    a sio:SIO_001121 .
}

dgn-np:NP213295.RA74izOacqTY60vOAGhOvTG5w1asNDTUxDI3QrhWFa-J8130_provenance {
  dgn-np:NP213295.RA74izOacqTY60vOAGhOvTG5w1asNDTUxDI3QrhWFa-J8130_assertion dcterms:description
      "[A 27-year-old mother of two children has been suffering from severe neutropenia and recurrent infections with the diagnosis of sporadic WHIM syndrome established by sequencing the CXCR4 gene and the finding of a heterozygous 1000 C-->T nonsense mutation in the second CXCR4 exon.]. 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:19043667;
    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:NP213295.RA74izOacqTY60vOAGhOvTG5w1asNDTUxDI3QrhWFa-J8130_publicationInfo {
  this: dcterms:created "2014-10-02T12:33:58+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" .
}