@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP609178.RA8DbjAR7kdUo9z3T_hGmoPlE8vqPQuEzWpVfnAT29b9I> .
@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:NP609178.RA8DbjAR7kdUo9z3T_hGmoPlE8vqPQuEzWpVfnAT29b9I130_head {
  this: np:hasAssertion dgn-np:NP609178.RA8DbjAR7kdUo9z3T_hGmoPlE8vqPQuEzWpVfnAT29b9I130_assertion;
    np:hasProvenance dgn-np:NP609178.RA8DbjAR7kdUo9z3T_hGmoPlE8vqPQuEzWpVfnAT29b9I130_provenance;
    np:hasPublicationInfo dgn-np:NP609178.RA8DbjAR7kdUo9z3T_hGmoPlE8vqPQuEzWpVfnAT29b9I130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP609178.RA8DbjAR7kdUo9z3T_hGmoPlE8vqPQuEzWpVfnAT29b9I130_assertion a np:Assertion .
  
  dgn-np:NP609178.RA8DbjAR7kdUo9z3T_hGmoPlE8vqPQuEzWpVfnAT29b9I130_provenance a np:Provenance .
  
  dgn-np:NP609178.RA8DbjAR7kdUo9z3T_hGmoPlE8vqPQuEzWpVfnAT29b9I130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP609178.RA8DbjAR7kdUo9z3T_hGmoPlE8vqPQuEzWpVfnAT29b9I130_assertion {
  miriam-gene:1080 a ncit:C16612 .
  
  lld:C0267963 a ncit:C7057 .
  
  dgn-gda:DGNd06b085d8fa5971d55f6b3d784cb72bc sio:SIO_000628 miriam-gene:1080, lld:C0267963;
    a sio:SIO_001121 .
}

dgn-np:NP609178.RA8DbjAR7kdUo9z3T_hGmoPlE8vqPQuEzWpVfnAT29b9I130_provenance {
  dgn-np:NP609178.RA8DbjAR7kdUo9z3T_hGmoPlE8vqPQuEzWpVfnAT29b9I130_assertion dcterms:description
      "[Two patients with different phenotypes (one PI, one PS) were found to be homozygous for the common delta F508 mutation of the CFTR gene, which proved the diagnosis of cystic fibrosis in their cases and allowed genetic counselling.]. 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:1749205;
    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:NP609178.RA8DbjAR7kdUo9z3T_hGmoPlE8vqPQuEzWpVfnAT29b9I130_publicationInfo {
  this: dcterms:created "2016-05-13T12:46:21+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" .
}