@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP404869.RA4y71H_09wa2tW669jhUXHvChmmfy5VU56-MgzuwPhHE> .
@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/v3.0.0/void/> .

dgn-np:NP404869.RA4y71H_09wa2tW669jhUXHvChmmfy5VU56-MgzuwPhHE130_head {
  this: np:hasAssertion dgn-np:NP404869.RA4y71H_09wa2tW669jhUXHvChmmfy5VU56-MgzuwPhHE130_assertion;
    np:hasProvenance dgn-np:NP404869.RA4y71H_09wa2tW669jhUXHvChmmfy5VU56-MgzuwPhHE130_provenance;
    np:hasPublicationInfo dgn-np:NP404869.RA4y71H_09wa2tW669jhUXHvChmmfy5VU56-MgzuwPhHE130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP404869.RA4y71H_09wa2tW669jhUXHvChmmfy5VU56-MgzuwPhHE130_assertion a np:Assertion .
  
  dgn-np:NP404869.RA4y71H_09wa2tW669jhUXHvChmmfy5VU56-MgzuwPhHE130_provenance a np:Provenance .
  
  dgn-np:NP404869.RA4y71H_09wa2tW669jhUXHvChmmfy5VU56-MgzuwPhHE130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP404869.RA4y71H_09wa2tW669jhUXHvChmmfy5VU56-MgzuwPhHE130_assertion {
  miriam-gene:2304 a ncit:C16612 .
  
  lld:C0339864 a ncit:C7057 .
  
  dgn-gda:DGN53cab3ac931f64ecbf930c0e02d8d5b8 sio:SIO_000628 miriam-gene:2304, lld:C0339864;
    a sio:SIO_001122 .
}

dgn-np:NP404869.RA4y71H_09wa2tW669jhUXHvChmmfy5VU56-MgzuwPhHE130_provenance {
  dgn-np:NP404869.RA4y71H_09wa2tW669jhUXHvChmmfy5VU56-MgzuwPhHE130_assertion dcterms:description
      "[Such incomplete loss of TTF-2 function may account for the absence of choanal atresia and bifid epiglottis in our patients, anomalies which were present together with CH and cleft palate in two other individuals with the only other, more deleterious, TTF-2 mutation (A65V) described previously.]. 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:12165566;
    prov:wasDerivedFrom dgn-void:befree-20150227;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP404869.RA4y71H_09wa2tW669jhUXHvChmmfy5VU56-MgzuwPhHE130_publicationInfo {
  this: dcterms:created "2015-08-25T14:41:35+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 "v3.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v3.0.0" .
}