@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP469190.RAjblqKEaUSpNmn1FpC8d6-0y258N2wJWdvGMEG164-7E> .
@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:NP469190.RAjblqKEaUSpNmn1FpC8d6-0y258N2wJWdvGMEG164-7E130_head {
  this: np:hasAssertion dgn-np:NP469190.RAjblqKEaUSpNmn1FpC8d6-0y258N2wJWdvGMEG164-7E130_assertion;
    np:hasProvenance dgn-np:NP469190.RAjblqKEaUSpNmn1FpC8d6-0y258N2wJWdvGMEG164-7E130_provenance;
    np:hasPublicationInfo dgn-np:NP469190.RAjblqKEaUSpNmn1FpC8d6-0y258N2wJWdvGMEG164-7E130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP469190.RAjblqKEaUSpNmn1FpC8d6-0y258N2wJWdvGMEG164-7E130_assertion a np:Assertion .
  
  dgn-np:NP469190.RAjblqKEaUSpNmn1FpC8d6-0y258N2wJWdvGMEG164-7E130_provenance a np:Provenance .
  
  dgn-np:NP469190.RAjblqKEaUSpNmn1FpC8d6-0y258N2wJWdvGMEG164-7E130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP469190.RAjblqKEaUSpNmn1FpC8d6-0y258N2wJWdvGMEG164-7E130_assertion {
  miriam-gene:7291 a ncit:C16612 .
  
  lld:C0175699 a ncit:C7057 .
  
  dgn-gda:DGNe4e857477b61788c06fd7a8303cae7c6 sio:SIO_000628 miriam-gene:7291, lld:C0175699;
    a sio:SIO_001121 .
}

dgn-np:NP469190.RAjblqKEaUSpNmn1FpC8d6-0y258N2wJWdvGMEG164-7E130_provenance {
  dgn-np:NP469190.RAjblqKEaUSpNmn1FpC8d6-0y258N2wJWdvGMEG164-7E130_assertion dcterms:description
      "[To date, more than 80 different mutations in TWIST have been reported in the literature.Recently, large deletions of chromosome 7p, encompassing the TWIST locus, have been detected in patients with clinical features of Saethre-Chotzen syndrome.]. 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:15547403;
    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:NP469190.RAjblqKEaUSpNmn1FpC8d6-0y258N2wJWdvGMEG164-7E130_publicationInfo {
  this: dcterms:created "2016-05-13T12:45:17+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" .
}