@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1005148.RAPQRcELHz5WOvfhL9i9obs6raIffAbbR79B0VWbXKqf4> .
@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:NP1005148.RAPQRcELHz5WOvfhL9i9obs6raIffAbbR79B0VWbXKqf4130_head {
  this: np:hasAssertion dgn-np:NP1005148.RAPQRcELHz5WOvfhL9i9obs6raIffAbbR79B0VWbXKqf4130_assertion;
    np:hasProvenance dgn-np:NP1005148.RAPQRcELHz5WOvfhL9i9obs6raIffAbbR79B0VWbXKqf4130_provenance;
    np:hasPublicationInfo dgn-np:NP1005148.RAPQRcELHz5WOvfhL9i9obs6raIffAbbR79B0VWbXKqf4130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1005148.RAPQRcELHz5WOvfhL9i9obs6raIffAbbR79B0VWbXKqf4130_assertion a np:Assertion .
  
  dgn-np:NP1005148.RAPQRcELHz5WOvfhL9i9obs6raIffAbbR79B0VWbXKqf4130_provenance a np:Provenance .
  
  dgn-np:NP1005148.RAPQRcELHz5WOvfhL9i9obs6raIffAbbR79B0VWbXKqf4130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1005148.RAPQRcELHz5WOvfhL9i9obs6raIffAbbR79B0VWbXKqf4130_assertion {
  miriam-gene:5307 a ncit:C16612 .
  
  lld:C0009081 a ncit:C7057 .
  
  dgn-gda:DGNf2d269268c94785c036565c14133bc53 sio:SIO_000628 miriam-gene:5307, lld:C0009081;
    a sio:SIO_001121 .
}

dgn-np:NP1005148.RAPQRcELHz5WOvfhL9i9obs6raIffAbbR79B0VWbXKqf4130_provenance {
  dgn-np:NP1005148.RAPQRcELHz5WOvfhL9i9obs6raIffAbbR79B0VWbXKqf4130_assertion dcterms:description
      "[Twelve rare copy number variants segregate with talipes equinovarus in multiplex pedigrees, and contain the developmentally expressed transcription factors and transcriptional regulators PITX1, TBX4, HOXC13, UTX, CHD (chromodomain protein)1, and RIPPLY2.]. 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:22892537;
    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:NP1005148.RAPQRcELHz5WOvfhL9i9obs6raIffAbbR79B0VWbXKqf4130_publicationInfo {
  this: dcterms:created "2016-05-13T12:49:21+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" .
}