@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP772650.RAl8O6jprXf2Xt1x_35hfuPeQOk61b1fmpgFUj4KWI6Uk> .
@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:NP772650.RAl8O6jprXf2Xt1x_35hfuPeQOk61b1fmpgFUj4KWI6Uk130_head {
  this: np:hasAssertion dgn-np:NP772650.RAl8O6jprXf2Xt1x_35hfuPeQOk61b1fmpgFUj4KWI6Uk130_assertion;
    np:hasProvenance dgn-np:NP772650.RAl8O6jprXf2Xt1x_35hfuPeQOk61b1fmpgFUj4KWI6Uk130_provenance;
    np:hasPublicationInfo dgn-np:NP772650.RAl8O6jprXf2Xt1x_35hfuPeQOk61b1fmpgFUj4KWI6Uk130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP772650.RAl8O6jprXf2Xt1x_35hfuPeQOk61b1fmpgFUj4KWI6Uk130_assertion a np:Assertion .
  
  dgn-np:NP772650.RAl8O6jprXf2Xt1x_35hfuPeQOk61b1fmpgFUj4KWI6Uk130_provenance a np:Provenance .
  
  dgn-np:NP772650.RAl8O6jprXf2Xt1x_35hfuPeQOk61b1fmpgFUj4KWI6Uk130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP772650.RAl8O6jprXf2Xt1x_35hfuPeQOk61b1fmpgFUj4KWI6Uk130_assertion {
  miriam-gene:3342 a ncit:C16612 .
  
  lld:C0025958 a ncit:C7057 .
  
  dgn-gda:DGN4f05acdccf4f1bfc31e59f32994d9b98 sio:SIO_000628 miriam-gene:3342, lld:C0025958;
    a sio:SIO_001121 .
}

dgn-np:NP772650.RAl8O6jprXf2Xt1x_35hfuPeQOk61b1fmpgFUj4KWI6Uk130_provenance {
  dgn-np:NP772650.RAl8O6jprXf2Xt1x_35hfuPeQOk61b1fmpgFUj4KWI6Uk130_assertion dcterms:description
      "[We describe a 6-year-old boy carrying a de novo 5 Mb interstitial deletion of chromosome 8p23.1 identified by means of oligonucleotide array comparative genomic hybridisation (array CGH), who showed the typical signs of 8p23.1 deletion syndrome, including congenital heart defects, microcephaly, psychomotor delay and behavioural problems.]. 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:20969981;
    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:NP772650.RAl8O6jprXf2Xt1x_35hfuPeQOk61b1fmpgFUj4KWI6Uk130_publicationInfo {
  this: dcterms:created "2014-10-02T12:39:47+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" .
}