@prefix dc: <http://purl.org/dc/terms/> .
@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP79843.RAdc6O7tVpvNH1TK0J12y0pj5KO6xAYiOCSfRo21FobyA> .
@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 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:NP79843.RAdc6O7tVpvNH1TK0J12y0pj5KO6xAYiOCSfRo21FobyA130_head {
  this: np:hasAssertion dgn-np:NP79843.RAdc6O7tVpvNH1TK0J12y0pj5KO6xAYiOCSfRo21FobyA130_assertion;
    np:hasProvenance dgn-np:NP79843.RAdc6O7tVpvNH1TK0J12y0pj5KO6xAYiOCSfRo21FobyA130_provenance;
    np:hasPublicationInfo dgn-np:NP79843.RAdc6O7tVpvNH1TK0J12y0pj5KO6xAYiOCSfRo21FobyA130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP79843.RAdc6O7tVpvNH1TK0J12y0pj5KO6xAYiOCSfRo21FobyA130_assertion a np:Assertion .
  
  dgn-np:NP79843.RAdc6O7tVpvNH1TK0J12y0pj5KO6xAYiOCSfRo21FobyA130_provenance a np:Provenance .
  
  dgn-np:NP79843.RAdc6O7tVpvNH1TK0J12y0pj5KO6xAYiOCSfRo21FobyA130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP79843.RAdc6O7tVpvNH1TK0J12y0pj5KO6xAYiOCSfRo21FobyA130_assertion {
  miriam-gene:7466 a ncit:C16612 .
  
  lld:C0011053 a ncit:C7057 .
  
  dgn-gda:DGN1dd2252e2c287c3927402106f0e14d6d sio:SIO_000628 miriam-gene:7466, lld:C0011053;
    a sio:SIO_001122 .
}

dgn-np:NP79843.RAdc6O7tVpvNH1TK0J12y0pj5KO6xAYiOCSfRo21FobyA130_provenance {
  dgn-np:NP79843.RAdc6O7tVpvNH1TK0J12y0pj5KO6xAYiOCSfRo21FobyA130_assertion dc:description
      "[The aim of the study was to determine (1) the frequency and type of mutations in the coding region of the GJB2 gene (sequencing), (2) the frequency of splice site mutation IVS1 + 1G > A in the GJB2 gene (multiplex ligation-dependent probe amplification analysis), (3) possible copy number changes in the GJB2, GJB3, GJB6, and WFS1 genes (multiplex ligation-dependent probe amplification analysis), and (4) the frequency of del(GJB6-D13S1830) in the GJB6 gene in 58 unrelated patients with nonsyndromic hearing loss from Croatia.]. 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:19814620;
    prov:wasDerivedFrom dgn-void:gad-20130706;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:gad-20130706 pav:importedOn "2013-07-06"^^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:NP79843.RAdc6O7tVpvNH1TK0J12y0pj5KO6xAYiOCSfRo21FobyA130_publicationInfo {
  this: dc:created "2014-10-02T12:32:39+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: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" .
}