@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP617412.RA2is7SI_05hrox4BrE6m4ioOohQwgfVIPfaxHQZg6YMY> .
@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:NP617412.RA2is7SI_05hrox4BrE6m4ioOohQwgfVIPfaxHQZg6YMY130_head {
  this: np:hasAssertion dgn-np:NP617412.RA2is7SI_05hrox4BrE6m4ioOohQwgfVIPfaxHQZg6YMY130_assertion;
    np:hasProvenance dgn-np:NP617412.RA2is7SI_05hrox4BrE6m4ioOohQwgfVIPfaxHQZg6YMY130_provenance;
    np:hasPublicationInfo dgn-np:NP617412.RA2is7SI_05hrox4BrE6m4ioOohQwgfVIPfaxHQZg6YMY130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP617412.RA2is7SI_05hrox4BrE6m4ioOohQwgfVIPfaxHQZg6YMY130_assertion a np:Assertion .
  
  dgn-np:NP617412.RA2is7SI_05hrox4BrE6m4ioOohQwgfVIPfaxHQZg6YMY130_provenance a np:Provenance .
  
  dgn-np:NP617412.RA2is7SI_05hrox4BrE6m4ioOohQwgfVIPfaxHQZg6YMY130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP617412.RA2is7SI_05hrox4BrE6m4ioOohQwgfVIPfaxHQZg6YMY130_assertion {
  miriam-gene:3981 a ncit:C16612 .
  
  lld:C0398791 a ncit:C7057 .
  
  dgn-gda:DGN711a8afd751cfd94b6f699fc02a8d92d sio:SIO_000628 miriam-gene:3981, lld:C0398791;
    a sio:SIO_001121 .
}

dgn-np:NP617412.RA2is7SI_05hrox4BrE6m4ioOohQwgfVIPfaxHQZg6YMY130_provenance {
  dgn-np:NP617412.RA2is7SI_05hrox4BrE6m4ioOohQwgfVIPfaxHQZg6YMY130_assertion dcterms:description
      "[The clinical phenotype of Ligase IV syndrome (LIG4 syndrome), an extremely rare autosomal recessive condition caused by mutations in the LIG4 gene, closely resembles that of Nijmegen breakage syndrome (NBS), and is characterized by microcephaly, characteristic facial features, growth retardation, developmental delay, and immunodeficiency.]. 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:16088910;
    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:NP617412.RA2is7SI_05hrox4BrE6m4ioOohQwgfVIPfaxHQZg6YMY130_publicationInfo {
  this: dcterms:created "2014-10-02T12:38:13+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" .
}