@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP192959.RA0T9T5Gbs-fULhuCj4-ZaXyIrWsDdxlS_gMXpzI9R1KE> .
@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:NP192959.RA0T9T5Gbs-fULhuCj4-ZaXyIrWsDdxlS_gMXpzI9R1KE130_head {
  this: np:hasAssertion dgn-np:NP192959.RA0T9T5Gbs-fULhuCj4-ZaXyIrWsDdxlS_gMXpzI9R1KE130_assertion;
    np:hasProvenance dgn-np:NP192959.RA0T9T5Gbs-fULhuCj4-ZaXyIrWsDdxlS_gMXpzI9R1KE130_provenance;
    np:hasPublicationInfo dgn-np:NP192959.RA0T9T5Gbs-fULhuCj4-ZaXyIrWsDdxlS_gMXpzI9R1KE130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP192959.RA0T9T5Gbs-fULhuCj4-ZaXyIrWsDdxlS_gMXpzI9R1KE130_assertion a np:Assertion .
  
  dgn-np:NP192959.RA0T9T5Gbs-fULhuCj4-ZaXyIrWsDdxlS_gMXpzI9R1KE130_provenance a np:Provenance .
  
  dgn-np:NP192959.RA0T9T5Gbs-fULhuCj4-ZaXyIrWsDdxlS_gMXpzI9R1KE130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP192959.RA0T9T5Gbs-fULhuCj4-ZaXyIrWsDdxlS_gMXpzI9R1KE130_assertion {
  miriam-gene:182 a ncit:C16612 .
  
  lld:C0796126 a ncit:C7057 .
  
  dgn-gda:DGN9b0c688301d2428105d320bea7be1054 sio:SIO_000628 miriam-gene:182, lld:C0796126;
    a sio:SIO_001121 .
}

dgn-np:NP192959.RA0T9T5Gbs-fULhuCj4-ZaXyIrWsDdxlS_gMXpzI9R1KE130_provenance {
  dgn-np:NP192959.RA0T9T5Gbs-fULhuCj4-ZaXyIrWsDdxlS_gMXpzI9R1KE130_assertion dcterms:description
      "[Since the phenotype of the patient with a complete deletion of the JAG1 gene is indistinguishable from that of patients with intragenic mutations, our study further supports the hypothesis that haploinsufficiency is the most common mechanism involved in AGS pathogenesis.]. 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:10533065;
    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:NP192959.RA0T9T5Gbs-fULhuCj4-ZaXyIrWsDdxlS_gMXpzI9R1KE130_publicationInfo {
  this: dcterms:created "2014-10-02T12:33:46+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" .
}