@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1020650.RA7jNCWp64JQR7isXr7b_bJeC0zprYI6_x4VjCdlPAek8> .
@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/> .
@prefix wi: <http://purl.org/ontology/wi/core#> .
@prefix prov: <http://www.w3.org/ns/prov#> .
@prefix pav: <http://purl.org/pav/> .
@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/resource/nanopub/> .
@prefix dgn-gda: <http://rdf.disgenet.org/resource/gda/> .
@prefix dgn-void: <http://rdf.disgenet.org/v4.0.0/void/> .

dgn-np:NP1020650.RA7jNCWp64JQR7isXr7b_bJeC0zprYI6_x4VjCdlPAek8130_head {
  this: np:hasAssertion dgn-np:NP1020650.RA7jNCWp64JQR7isXr7b_bJeC0zprYI6_x4VjCdlPAek8130_assertion;
    np:hasProvenance dgn-np:NP1020650.RA7jNCWp64JQR7isXr7b_bJeC0zprYI6_x4VjCdlPAek8130_provenance;
    np:hasPublicationInfo dgn-np:NP1020650.RA7jNCWp64JQR7isXr7b_bJeC0zprYI6_x4VjCdlPAek8130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1020650.RA7jNCWp64JQR7isXr7b_bJeC0zprYI6_x4VjCdlPAek8130_assertion a np:Assertion .
  
  dgn-np:NP1020650.RA7jNCWp64JQR7isXr7b_bJeC0zprYI6_x4VjCdlPAek8130_provenance a np:Provenance .
  
  dgn-np:NP1020650.RA7jNCWp64JQR7isXr7b_bJeC0zprYI6_x4VjCdlPAek8130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1020650.RA7jNCWp64JQR7isXr7b_bJeC0zprYI6_x4VjCdlPAek8130_assertion {
  miriam-gene:1387 a ncit:C16612 .
  
  lld:C0035934 a ncit:C7057 .
  
  dgn-gda:DGN4a996767780f1a0ca7ad8e4e97cf40df sio:SIO_000628 miriam-gene:1387, lld:C0035934;
    a sio:SIO_001121 .
}

dgn-np:NP1020650.RA7jNCWp64JQR7isXr7b_bJeC0zprYI6_x4VjCdlPAek8130_provenance {
  dgn-np:NP1020650.RA7jNCWp64JQR7isXr7b_bJeC0zprYI6_x4VjCdlPAek8130_assertion dcterms:description
      "[Interstitial 16p13.3 duplication, encompassing the CREBBP gene, which is mutated or deleted in the Rubinstein-Taybi syndrome, have been proposed to cause a recognisable syndrome with variable intellectual disability, normal growth, mild facial dysmorphism, mild anomalies of the extremities, and occasional findings such as developmental defects of the heart, genitalia, palate or the eyes.]. 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:23063576;
    prov:wasDerivedFrom dgn-void:befree-2016;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP1020650.RA7jNCWp64JQR7isXr7b_bJeC0zprYI6_x4VjCdlPAek8130_publicationInfo {
  this: dcterms:created "2016-05-13T12:49:28+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:disgenetv3.0rdf;
    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 "v4.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v4.0.0" .
}