@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP543867.RA_71v02sshfJ8096_nDaHBnae95V5VIkklgWkQ-kbFp4> .
@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:NP543867.RA_71v02sshfJ8096_nDaHBnae95V5VIkklgWkQ-kbFp4130_head {
  this: np:hasAssertion dgn-np:NP543867.RA_71v02sshfJ8096_nDaHBnae95V5VIkklgWkQ-kbFp4130_assertion;
    np:hasProvenance dgn-np:NP543867.RA_71v02sshfJ8096_nDaHBnae95V5VIkklgWkQ-kbFp4130_provenance;
    np:hasPublicationInfo dgn-np:NP543867.RA_71v02sshfJ8096_nDaHBnae95V5VIkklgWkQ-kbFp4130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP543867.RA_71v02sshfJ8096_nDaHBnae95V5VIkklgWkQ-kbFp4130_assertion a np:Assertion .
  
  dgn-np:NP543867.RA_71v02sshfJ8096_nDaHBnae95V5VIkklgWkQ-kbFp4130_provenance a np:Provenance .
  
  dgn-np:NP543867.RA_71v02sshfJ8096_nDaHBnae95V5VIkklgWkQ-kbFp4130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP543867.RA_71v02sshfJ8096_nDaHBnae95V5VIkklgWkQ-kbFp4130_assertion {
  miriam-gene:57216 a ncit:C16612 .
  
  lld:C3469521 a ncit:C7057 .
  
  dgn-gda:DGNeee4b4483dbff319a7be8c2fcd04b716 sio:SIO_000628 miriam-gene:57216, lld:C3469521;
    a sio:SIO_001121 .
}

dgn-np:NP543867.RA_71v02sshfJ8096_nDaHBnae95V5VIkklgWkQ-kbFp4130_provenance {
  dgn-np:NP543867.RA_71v02sshfJ8096_nDaHBnae95V5VIkklgWkQ-kbFp4130_assertion dcterms:description
      "[This case is a unique deletion that mimicked Fanconi anemia (combination of thrombocytopenia, thumb anomalies, congenital heart defects, borderline small head circumference, strabismus, hydronephrosis, and significant developmental delay) but testing for Fanconi anemia was negative, as was testing for a wide array of genetic/metabolic conditions.]. 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:21204218;
    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:NP543867.RA_71v02sshfJ8096_nDaHBnae95V5VIkklgWkQ-kbFp4130_publicationInfo {
  this: dcterms:created "2014-10-02T12:37:28+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" .
}