@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP556483.RAYZBvcmnbhlx4OO9ZCazGYfNc9mdXunxvHxknzU6UNQE> .
@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:NP556483.RAYZBvcmnbhlx4OO9ZCazGYfNc9mdXunxvHxknzU6UNQE130_head {
  this: np:hasAssertion dgn-np:NP556483.RAYZBvcmnbhlx4OO9ZCazGYfNc9mdXunxvHxknzU6UNQE130_assertion;
    np:hasProvenance dgn-np:NP556483.RAYZBvcmnbhlx4OO9ZCazGYfNc9mdXunxvHxknzU6UNQE130_provenance;
    np:hasPublicationInfo dgn-np:NP556483.RAYZBvcmnbhlx4OO9ZCazGYfNc9mdXunxvHxknzU6UNQE130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP556483.RAYZBvcmnbhlx4OO9ZCazGYfNc9mdXunxvHxknzU6UNQE130_assertion a np:Assertion .
  
  dgn-np:NP556483.RAYZBvcmnbhlx4OO9ZCazGYfNc9mdXunxvHxknzU6UNQE130_provenance a np:Provenance .
  
  dgn-np:NP556483.RAYZBvcmnbhlx4OO9ZCazGYfNc9mdXunxvHxknzU6UNQE130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP556483.RAYZBvcmnbhlx4OO9ZCazGYfNc9mdXunxvHxknzU6UNQE130_assertion {
  miriam-gene:730394 a ncit:C16612 .
  
  lld:C0263490 a ncit:C7057 .
  
  dgn-gda:DGNab5976070d3026f18f1078d6a0e120f4 sio:SIO_000628 miriam-gene:730394, lld:C0263490;
    a sio:SIO_001121 .
}

dgn-np:NP556483.RAYZBvcmnbhlx4OO9ZCazGYfNc9mdXunxvHxknzU6UNQE130_provenance {
  dgn-np:NP556483.RAYZBvcmnbhlx4OO9ZCazGYfNc9mdXunxvHxknzU6UNQE130_assertion dcterms:description
      "[The observations made by clinicians close to XP, TTD and CS patients, suggested that transcription defects responsible for brittle hair and nails for TTD, or developmental abnormalities for CS, resulted from TFIIH mutations.]. 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:11412842;
    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:NP556483.RAYZBvcmnbhlx4OO9ZCazGYfNc9mdXunxvHxknzU6UNQE130_publicationInfo {
  this: dcterms:created "2014-10-02T12:37:35+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" .
}