@prefix orcid: <http://orcid.org/> .
@prefix dc: <http://purl.org/dc/terms/> .
@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP8326.RAk5dJC1wo2cyceQqr_ESIqqRJe926Ko7cc-IkA7qJiWA> .
@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 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:NP8326.RAk5dJC1wo2cyceQqr_ESIqqRJe926Ko7cc-IkA7qJiWA130_head {
   this: np:hasAssertion dgn-np:NP8326.RAk5dJC1wo2cyceQqr_ESIqqRJe926Ko7cc-IkA7qJiWA130_assertion ;
    np:hasProvenance dgn-np:NP8326.RAk5dJC1wo2cyceQqr_ESIqqRJe926Ko7cc-IkA7qJiWA130_provenance ;
    np:hasPublicationInfo dgn-np:NP8326.RAk5dJC1wo2cyceQqr_ESIqqRJe926Ko7cc-IkA7qJiWA130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP8326.RAk5dJC1wo2cyceQqr_ESIqqRJe926Ko7cc-IkA7qJiWA130_assertion a np:Assertion .
  dgn-np:NP8326.RAk5dJC1wo2cyceQqr_ESIqqRJe926Ko7cc-IkA7qJiWA130_provenance a np:Provenance .
  dgn-np:NP8326.RAk5dJC1wo2cyceQqr_ESIqqRJe926Ko7cc-IkA7qJiWA130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP8326.RAk5dJC1wo2cyceQqr_ESIqqRJe926Ko7cc-IkA7qJiWA130_assertion {
   miriam-gene:1080 a ncit:C16612 .
  lld:C0010674 a ncit:C7057 .
  dgn-gda:DGNfdcd562afb9096c3bb97499152dd60f3 sio:SIO_000628 miriam-gene:1080 , lld:C0010674 ;
    a sio:SIO_001122 .
}
dgn-np:NP8326.RAk5dJC1wo2cyceQqr_ESIqqRJe926Ko7cc-IkA7qJiWA130_provenance {
   dgn-np:NP8326.RAk5dJC1wo2cyceQqr_ESIqqRJe926Ko7cc-IkA7qJiWA130_assertion dc:description "[We carried out molecular screening for mutations in the cystic fibrosis transmembrane regulator (CFTR) gene in eight children of Sardinian descent seen because of hypotonic dehydration associated with hyponatremia, hypochloremia, hypokalemia, and metabolic alkalosis; none had pulmonary or pancreatic involvement.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
    wi:evidence dgn-void:source_evidence_curated ;
    sio:SIO_000772 miriam-pubmed:7543567 ;
    prov:wasDerivedFrom dgn-void:uniprot-2016 ;
    prov:wasGeneratedBy eco:ECO_0000218 .
  dgn-void:source_evidence_curated a eco:ECO_0000205 ;
    rdfs:comment "Gene-disease associations manually curated."@en ;
    rdfs:label "DisGeNET evidence - CURATED"@en .
  dgn-void:uniprot-2016 pav:importedOn "2016-01-25"^^xsd:date .
}
dgn-np:NP8326.RAk5dJC1wo2cyceQqr_ESIqqRJe926Ko7cc-IkA7qJiWA130_publicationInfo {
   this: dc:created "2016-05-13T12:41:53+02:00"^^xsd:dateTime ;
    dc:rights <http://opendatacommons.org/licenses/odbl/1.0/> ;
    dc:rightsHolder dgn-void:IBIGroup ;
    dc:subject sio:SIO_000983 ;
    prv:usedData dgn-void:disgenetv3.0rdf ;
    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 "v4.0.0.0" .
  dgn-void:disgenetv3.0rdf pav:version "v4.0.0" .
}