@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP170930.RAX1FBYfa_i63iSOZ7cko_izLgZ14LgCiDDKgCdP1EVAs> .
@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:NP170930.RAX1FBYfa_i63iSOZ7cko_izLgZ14LgCiDDKgCdP1EVAs130_head {
  this: np:hasAssertion dgn-np:NP170930.RAX1FBYfa_i63iSOZ7cko_izLgZ14LgCiDDKgCdP1EVAs130_assertion;
    np:hasProvenance dgn-np:NP170930.RAX1FBYfa_i63iSOZ7cko_izLgZ14LgCiDDKgCdP1EVAs130_provenance;
    np:hasPublicationInfo dgn-np:NP170930.RAX1FBYfa_i63iSOZ7cko_izLgZ14LgCiDDKgCdP1EVAs130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP170930.RAX1FBYfa_i63iSOZ7cko_izLgZ14LgCiDDKgCdP1EVAs130_assertion a np:Assertion .
  
  dgn-np:NP170930.RAX1FBYfa_i63iSOZ7cko_izLgZ14LgCiDDKgCdP1EVAs130_provenance a np:Provenance .
  
  dgn-np:NP170930.RAX1FBYfa_i63iSOZ7cko_izLgZ14LgCiDDKgCdP1EVAs130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP170930.RAX1FBYfa_i63iSOZ7cko_izLgZ14LgCiDDKgCdP1EVAs130_assertion {
  miriam-gene:10804 a ncit:C16612 .
  
  lld:C0011053 a ncit:C7057 .
  
  dgn-gda:DGNa905c1e54155eec64e68134268273132 sio:SIO_000628 miriam-gene:10804, lld:C0011053;
    a sio:SIO_001121 .
}

dgn-np:NP170930.RAX1FBYfa_i63iSOZ7cko_izLgZ14LgCiDDKgCdP1EVAs130_provenance {
  dgn-np:NP170930.RAX1FBYfa_i63iSOZ7cko_izLgZ14LgCiDDKgCdP1EVAs130_assertion dcterms:description
      "[Next, two protocols are presented: (1) a full gene-sequencing assay to identify mutations in the GJB2 gene (encoding connexin 26), the most common cause of congenital hearing loss, and (2) an assay to detect the presence of the GJB6-D13S1830 deletion, a 342-kb deletion that causes hearing loss in homozygosity or in combination with a single GJB2 mutation.]. 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:22241658;
    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:NP170930.RAX1FBYfa_i63iSOZ7cko_izLgZ14LgCiDDKgCdP1EVAs130_publicationInfo {
  this: dcterms:created "2014-10-02T12:33:32+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" .
}