@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP261386.RAfKyV0Ab0nx0iCJi7OBkFoPrGiMNav8mw3U70GkYsQh4> .
@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:NP261386.RAfKyV0Ab0nx0iCJi7OBkFoPrGiMNav8mw3U70GkYsQh4130_head {
  this: np:hasAssertion dgn-np:NP261386.RAfKyV0Ab0nx0iCJi7OBkFoPrGiMNav8mw3U70GkYsQh4130_assertion;
    np:hasProvenance dgn-np:NP261386.RAfKyV0Ab0nx0iCJi7OBkFoPrGiMNav8mw3U70GkYsQh4130_provenance;
    np:hasPublicationInfo dgn-np:NP261386.RAfKyV0Ab0nx0iCJi7OBkFoPrGiMNav8mw3U70GkYsQh4130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP261386.RAfKyV0Ab0nx0iCJi7OBkFoPrGiMNav8mw3U70GkYsQh4130_assertion a np:Assertion .
  
  dgn-np:NP261386.RAfKyV0Ab0nx0iCJi7OBkFoPrGiMNav8mw3U70GkYsQh4130_provenance a np:Provenance .
  
  dgn-np:NP261386.RAfKyV0Ab0nx0iCJi7OBkFoPrGiMNav8mw3U70GkYsQh4130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP261386.RAfKyV0Ab0nx0iCJi7OBkFoPrGiMNav8mw3U70GkYsQh4130_assertion {
  miriam-gene:3981 a ncit:C16612 .
  
  lld:C0025958 a ncit:C7057 .
  
  dgn-gda:DGNd0bc86780d65472526cd1886e832547e sio:SIO_000628 miriam-gene:3981, lld:C0025958;
    a sio:SIO_001121 .
}

dgn-np:NP261386.RAfKyV0Ab0nx0iCJi7OBkFoPrGiMNav8mw3U70GkYsQh4130_provenance {
  dgn-np:NP261386.RAfKyV0Ab0nx0iCJi7OBkFoPrGiMNav8mw3U70GkYsQh4130_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:NP261386.RAfKyV0Ab0nx0iCJi7OBkFoPrGiMNav8mw3U70GkYsQh4130_publicationInfo {
  this: dcterms:created "2014-10-02T12:34:26+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" .
}