@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP899847.RAUnDaajc6RUUIVaL-BoV1EpcKeDhnOLztlpzygi3nkBA> .
@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:NP899847.RAUnDaajc6RUUIVaL-BoV1EpcKeDhnOLztlpzygi3nkBA130_head {
  this: np:hasAssertion dgn-np:NP899847.RAUnDaajc6RUUIVaL-BoV1EpcKeDhnOLztlpzygi3nkBA130_assertion;
    np:hasProvenance dgn-np:NP899847.RAUnDaajc6RUUIVaL-BoV1EpcKeDhnOLztlpzygi3nkBA130_provenance;
    np:hasPublicationInfo dgn-np:NP899847.RAUnDaajc6RUUIVaL-BoV1EpcKeDhnOLztlpzygi3nkBA130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP899847.RAUnDaajc6RUUIVaL-BoV1EpcKeDhnOLztlpzygi3nkBA130_assertion a np:Assertion .
  
  dgn-np:NP899847.RAUnDaajc6RUUIVaL-BoV1EpcKeDhnOLztlpzygi3nkBA130_provenance a np:Provenance .
  
  dgn-np:NP899847.RAUnDaajc6RUUIVaL-BoV1EpcKeDhnOLztlpzygi3nkBA130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP899847.RAUnDaajc6RUUIVaL-BoV1EpcKeDhnOLztlpzygi3nkBA130_assertion {
  miriam-gene:79738 a ncit:C16612 .
  
  lld:C0152427 a ncit:C7057 .
  
  dgn-gda:DGN2875a0cf3a00d307ce608982829ac0f6 sio:SIO_000628 miriam-gene:79738, lld:C0152427;
    a sio:SIO_001121 .
}

dgn-np:NP899847.RAUnDaajc6RUUIVaL-BoV1EpcKeDhnOLztlpzygi3nkBA130_provenance {
  dgn-np:NP899847.RAUnDaajc6RUUIVaL-BoV1EpcKeDhnOLztlpzygi3nkBA130_assertion dcterms:description
      "[We report 7 patients diagnosed in the neonatal period with hydrometrocolpos and polydactyly who carry mutations in various BBS genes (BBS6, BBS2, BBS10, BBS8 and BBS12), stressing the importance of wide BBS genotyping in patients with this clinical association for diagnosis, prognosis and genetic counselling.]. 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:21044901;
    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:NP899847.RAUnDaajc6RUUIVaL-BoV1EpcKeDhnOLztlpzygi3nkBA130_publicationInfo {
  this: dcterms:created "2014-10-02T12:41:13+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" .
}