@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP882870.RAUF8Y4gRTeWOieQVvbaSnXTb4LHUwmUnC1iyyDDhXzus> .
@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:NP882870.RAUF8Y4gRTeWOieQVvbaSnXTb4LHUwmUnC1iyyDDhXzus130_head {
   this: np:hasAssertion dgn-np:NP882870.RAUF8Y4gRTeWOieQVvbaSnXTb4LHUwmUnC1iyyDDhXzus130_assertion ;
    np:hasProvenance dgn-np:NP882870.RAUF8Y4gRTeWOieQVvbaSnXTb4LHUwmUnC1iyyDDhXzus130_provenance ;
    np:hasPublicationInfo dgn-np:NP882870.RAUF8Y4gRTeWOieQVvbaSnXTb4LHUwmUnC1iyyDDhXzus130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP882870.RAUF8Y4gRTeWOieQVvbaSnXTb4LHUwmUnC1iyyDDhXzus130_assertion a np:Assertion .
  dgn-np:NP882870.RAUF8Y4gRTeWOieQVvbaSnXTb4LHUwmUnC1iyyDDhXzus130_provenance a np:Provenance .
  dgn-np:NP882870.RAUF8Y4gRTeWOieQVvbaSnXTb4LHUwmUnC1iyyDDhXzus130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP882870.RAUF8Y4gRTeWOieQVvbaSnXTb4LHUwmUnC1iyyDDhXzus130_assertion {
   miriam-gene:26278 a ncit:C16612 .
  lld:C0010674 a ncit:C7057 .
  dgn-gda:DGN317c1b0431a9a37b4fabcd2b79bf6e81 sio:SIO_000628 miriam-gene:26278 , lld:C0010674 ;
    a sio:SIO_001121 .
}
dgn-np:NP882870.RAUF8Y4gRTeWOieQVvbaSnXTb4LHUwmUnC1iyyDDhXzus130_provenance {
   dgn-np:NP882870.RAUF8Y4gRTeWOieQVvbaSnXTb4LHUwmUnC1iyyDDhXzus130_assertion dcterms:description "[Rare pathogenic alleles with high penetrance and associated haplotypes at 10 loci (CFTR, FAH, HBB, HEXA, LDLR, LPL, PAH, PABP2, PDDR, and SACS) are expressed in probands with cystic fibrosis, tyrosinemia, beta-thalassemia, Tay-Sachs, familial hypercholesterolemia, hyperchylomicronemia, PKU, oculopharyngeal muscular dystrophy, pseudo vitamin D deficiency rickets, and spastic ataxia of Charlevoix-Saguenay, respectively) reveal the interpopulation and intrapopulation genetic diversity of Quebec.]. 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:11701644 ;
    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:NP882870.RAUF8Y4gRTeWOieQVvbaSnXTb4LHUwmUnC1iyyDDhXzus130_publicationInfo {
   this: dcterms:created "2015-08-25T14:46:38+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" .
}