@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP738965.RArybU_W-zz_nJXA5DrQDgG7TDqH7sTRNtF9eXB0WrzBU> .
@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:NP738965.RArybU_W-zz_nJXA5DrQDgG7TDqH7sTRNtF9eXB0WrzBU130_head {
  this: np:hasAssertion dgn-np:NP738965.RArybU_W-zz_nJXA5DrQDgG7TDqH7sTRNtF9eXB0WrzBU130_assertion;
    np:hasProvenance dgn-np:NP738965.RArybU_W-zz_nJXA5DrQDgG7TDqH7sTRNtF9eXB0WrzBU130_provenance;
    np:hasPublicationInfo dgn-np:NP738965.RArybU_W-zz_nJXA5DrQDgG7TDqH7sTRNtF9eXB0WrzBU130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP738965.RArybU_W-zz_nJXA5DrQDgG7TDqH7sTRNtF9eXB0WrzBU130_assertion a np:Assertion .
  
  dgn-np:NP738965.RArybU_W-zz_nJXA5DrQDgG7TDqH7sTRNtF9eXB0WrzBU130_provenance a np:Provenance .
  
  dgn-np:NP738965.RArybU_W-zz_nJXA5DrQDgG7TDqH7sTRNtF9eXB0WrzBU130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP738965.RArybU_W-zz_nJXA5DrQDgG7TDqH7sTRNtF9eXB0WrzBU130_assertion {
  miriam-gene:4286 a ncit:C16612 .
  
  lld:C0019569 a ncit:C7057 .
  
  dgn-gda:DGNcc8a2fe9f6eb0aec27c061c54950d719 sio:SIO_000628 miriam-gene:4286, lld:C0019569;
    a sio:SIO_001121 .
}

dgn-np:NP738965.RArybU_W-zz_nJXA5DrQDgG7TDqH7sTRNtF9eXB0WrzBU130_provenance {
  dgn-np:NP738965.RArybU_W-zz_nJXA5DrQDgG7TDqH7sTRNtF9eXB0WrzBU130_assertion dcterms:description
      "[The recent identification of a deletion encompassing three of the SOX10 regulatory elements in a patient presenting with another WS subtype, WS4, defined by its association with Hirschsprung disease, led us to search for deletions and point mutations within the MITF and SOX10 regulatory elements in 28 yet unexplained WS2 cases.]. 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:22848661;
    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:NP738965.RArybU_W-zz_nJXA5DrQDgG7TDqH7sTRNtF9eXB0WrzBU130_publicationInfo {
  this: dcterms:created "2014-10-02T12:39:28+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" .
}