@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP763547.RAa2KAioRIZbjwWCtvK_bdLtmPgjqOgtPjTulsgo0L1ps> .
@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:NP763547.RAa2KAioRIZbjwWCtvK_bdLtmPgjqOgtPjTulsgo0L1ps130_head {
  this: np:hasAssertion dgn-np:NP763547.RAa2KAioRIZbjwWCtvK_bdLtmPgjqOgtPjTulsgo0L1ps130_assertion;
    np:hasProvenance dgn-np:NP763547.RAa2KAioRIZbjwWCtvK_bdLtmPgjqOgtPjTulsgo0L1ps130_provenance;
    np:hasPublicationInfo dgn-np:NP763547.RAa2KAioRIZbjwWCtvK_bdLtmPgjqOgtPjTulsgo0L1ps130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP763547.RAa2KAioRIZbjwWCtvK_bdLtmPgjqOgtPjTulsgo0L1ps130_assertion a np:Assertion .
  
  dgn-np:NP763547.RAa2KAioRIZbjwWCtvK_bdLtmPgjqOgtPjTulsgo0L1ps130_provenance a np:Provenance .
  
  dgn-np:NP763547.RAa2KAioRIZbjwWCtvK_bdLtmPgjqOgtPjTulsgo0L1ps130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP763547.RAa2KAioRIZbjwWCtvK_bdLtmPgjqOgtPjTulsgo0L1ps130_assertion {
  miriam-gene:6934 a ncit:C16612 .
  
  lld:C0036857 a ncit:C7057 .
  
  dgn-gda:DGNa1622334b22be81878d0f30418f4716b sio:SIO_000628 miriam-gene:6934, lld:C0036857;
    a sio:SIO_001121 .
}

dgn-np:NP763547.RAa2KAioRIZbjwWCtvK_bdLtmPgjqOgtPjTulsgo0L1ps130_provenance {
  dgn-np:NP763547.RAa2KAioRIZbjwWCtvK_bdLtmPgjqOgtPjTulsgo0L1ps130_assertion dcterms:description
      "[Sequencing of the TCF4 transcription factor gene, which is contained in the deletion region, in 30 patients with significant phenotypic overlap revealed heterozygous stop, splice, and missense mutations in five further patients with severe mental retardation and remarkable facial resemblance.]. 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:17436255;
    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:NP763547.RAa2KAioRIZbjwWCtvK_bdLtmPgjqOgtPjTulsgo0L1ps130_publicationInfo {
  this: dcterms:created "2014-10-02T12:39:42+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" .
}