@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP917430.RASwobKXl2IfFa3vbK9y_Sfh2dFi2g01MPmsWd_Kx7s3I> .
@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:NP917430.RASwobKXl2IfFa3vbK9y_Sfh2dFi2g01MPmsWd_Kx7s3I130_head {
  this: np:hasAssertion dgn-np:NP917430.RASwobKXl2IfFa3vbK9y_Sfh2dFi2g01MPmsWd_Kx7s3I130_assertion;
    np:hasProvenance dgn-np:NP917430.RASwobKXl2IfFa3vbK9y_Sfh2dFi2g01MPmsWd_Kx7s3I130_provenance;
    np:hasPublicationInfo dgn-np:NP917430.RASwobKXl2IfFa3vbK9y_Sfh2dFi2g01MPmsWd_Kx7s3I130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP917430.RASwobKXl2IfFa3vbK9y_Sfh2dFi2g01MPmsWd_Kx7s3I130_assertion a np:Assertion .
  
  dgn-np:NP917430.RASwobKXl2IfFa3vbK9y_Sfh2dFi2g01MPmsWd_Kx7s3I130_provenance a np:Provenance .
  
  dgn-np:NP917430.RASwobKXl2IfFa3vbK9y_Sfh2dFi2g01MPmsWd_Kx7s3I130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP917430.RASwobKXl2IfFa3vbK9y_Sfh2dFi2g01MPmsWd_Kx7s3I130_assertion {
  miriam-gene:3342 a ncit:C16612 .
  
  lld:C0035934 a ncit:C7057 .
  
  dgn-gda:DGN0cbf116aff6cd3e0b6052a8f9c405bda sio:SIO_000628 miriam-gene:3342, lld:C0035934;
    a sio:SIO_001121 .
}

dgn-np:NP917430.RASwobKXl2IfFa3vbK9y_Sfh2dFi2g01MPmsWd_Kx7s3I130_provenance {
  dgn-np:NP917430.RASwobKXl2IfFa3vbK9y_Sfh2dFi2g01MPmsWd_Kx7s3I130_assertion dcterms:description
      "[To detect chromosomal rearrangements indicating novel positional candidate RSTS genes, we used a-CGH to study 26 patients fulfilling the diagnostic criteria for RSTS who were negative at fluorescence in situ hybridisation analyses of the CREBBP and EP300 regions, and direct sequencing analyses of the CREBBP gene.]. 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:20125191;
    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:NP917430.RASwobKXl2IfFa3vbK9y_Sfh2dFi2g01MPmsWd_Kx7s3I130_publicationInfo {
  this: dcterms:created "2014-10-02T12:41:23+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" .
}