@prefix dct: <http://purl.org/dc/terms/> .
@prefix orcid: <http://orcid.org/> .
@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP46864.RAg6fUJqEUyJBiHixaSD-SF88xeYgudhtnlN0fcL4O_pI> .
@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 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:NP46864.RAg6fUJqEUyJBiHixaSD-SF88xeYgudhtnlN0fcL4O_pI130_head {
  this: np:hasAssertion dgn-np:NP46864.RAg6fUJqEUyJBiHixaSD-SF88xeYgudhtnlN0fcL4O_pI130_assertion;
    np:hasProvenance dgn-np:NP46864.RAg6fUJqEUyJBiHixaSD-SF88xeYgudhtnlN0fcL4O_pI130_provenance;
    np:hasPublicationInfo dgn-np:NP46864.RAg6fUJqEUyJBiHixaSD-SF88xeYgudhtnlN0fcL4O_pI130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP46864.RAg6fUJqEUyJBiHixaSD-SF88xeYgudhtnlN0fcL4O_pI130_assertion a np:Assertion .
  
  dgn-np:NP46864.RAg6fUJqEUyJBiHixaSD-SF88xeYgudhtnlN0fcL4O_pI130_provenance a np:Provenance .
  
  dgn-np:NP46864.RAg6fUJqEUyJBiHixaSD-SF88xeYgudhtnlN0fcL4O_pI130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP46864.RAg6fUJqEUyJBiHixaSD-SF88xeYgudhtnlN0fcL4O_pI130_assertion {
  miriam-gene:1080 a ncit:C16612 .
  
  lld:C0403814 a ncit:C7057 .
  
  dgn-gda:DGN0f21affced50ad29ded060ba4272883b sio:SIO_000628 miriam-gene:1080, lld:C0403814;
    a sio:SIO_001122 .
}

dgn-np:NP46864.RAg6fUJqEUyJBiHixaSD-SF88xeYgudhtnlN0fcL4O_pI130_provenance {
  dgn-np:NP46864.RAg6fUJqEUyJBiHixaSD-SF88xeYgudhtnlN0fcL4O_pI130_assertion dct:description
      "[ Compound heterozygosity of severe/mild mutations accounted for the vast majority of the CBAVD patients with two mutations, and underscores the value of a more extensive CF mutation panel for men with CBAVD. The CF100 panel enables higher carrier detection rates especially for men with CBAVD, their partners, partners of known CF carriers, and those with 'mild' CF with rarer mutations.]. 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:12151438;
    prov:wasDerivedFrom dgn-void:gad-20130706;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:gad-20130706 pav:importedOn "2013-07-06"^^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:NP46864.RAg6fUJqEUyJBiHixaSD-SF88xeYgudhtnlN0fcL4O_pI130_publicationInfo {
  this: dct:created "2014-10-02T12:32:21+02:00"^^xsd:dateTime;
    dct:rights <http://opendatacommons.org/licenses/odbl/1.0/>;
    dct:rightsHolder dgn-void:IBIGroup;
    dct:subject sio:SIO_000983;
    prv:usedData dgn-void:disgenetrdf;
    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 "v2.1.0.0" .
  
  dgn-void:disgenetrdf pav:version "v2.1.0" .
}