@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP457059.RALpllTHtleH6tFUmXdtCriNZCa2D8YViCv2Mo1mJTCQ0> .
@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:NP457059.RALpllTHtleH6tFUmXdtCriNZCa2D8YViCv2Mo1mJTCQ0130_head {
   this: np:hasAssertion dgn-np:NP457059.RALpllTHtleH6tFUmXdtCriNZCa2D8YViCv2Mo1mJTCQ0130_assertion ;
    np:hasProvenance dgn-np:NP457059.RALpllTHtleH6tFUmXdtCriNZCa2D8YViCv2Mo1mJTCQ0130_provenance ;
    np:hasPublicationInfo dgn-np:NP457059.RALpllTHtleH6tFUmXdtCriNZCa2D8YViCv2Mo1mJTCQ0130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP457059.RALpllTHtleH6tFUmXdtCriNZCa2D8YViCv2Mo1mJTCQ0130_assertion a np:Assertion .
  dgn-np:NP457059.RALpllTHtleH6tFUmXdtCriNZCa2D8YViCv2Mo1mJTCQ0130_provenance a np:Provenance .
  dgn-np:NP457059.RALpllTHtleH6tFUmXdtCriNZCa2D8YViCv2Mo1mJTCQ0130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP457059.RALpllTHtleH6tFUmXdtCriNZCa2D8YViCv2Mo1mJTCQ0130_assertion {
   miriam-gene:1080 a ncit:C16612 .
  lld:C0030293 a ncit:C7057 .
  dgn-gda:DGN46192c4f7097e84bfed4b96ca97ea1e1 sio:SIO_000628 miriam-gene:1080 , lld:C0030293 ;
    a sio:SIO_001121 .
}
dgn-np:NP457059.RALpllTHtleH6tFUmXdtCriNZCa2D8YViCv2Mo1mJTCQ0130_provenance {
   dgn-np:NP457059.RALpllTHtleH6tFUmXdtCriNZCa2D8YViCv2Mo1mJTCQ0130_assertion dcterms:description "[Severe pancreatic insufficiency was associated with the presence of two CFTR gene mutations (DeltaF508, N1303K, CFTR dele 2,3 (21kb), G542X, 1717-1G-A, R533X, W1282X, 621GT, 2183AAG, R560T, 2184insA and DeltaI507, G551D, 895T) and mild insufficiency with the presence of at least one mutation (R117H, 3171insC, A155P2, 138insL, 296 + 1G-A, E92GK, E217G, 2789 + 5G-A.]. 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:11589722 ;
    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:NP457059.RALpllTHtleH6tFUmXdtCriNZCa2D8YViCv2Mo1mJTCQ0130_publicationInfo {
   this: dcterms:created "2014-10-02T12:36:32+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" .
}