@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1258345.RAoS2JJB1EjO2QrWYW9Q1ylZPWtxknT1xFqHkQCrbE1Tw> .
@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:NP1258345.RAoS2JJB1EjO2QrWYW9Q1ylZPWtxknT1xFqHkQCrbE1Tw130_head {
  this: np:hasAssertion dgn-np:NP1258345.RAoS2JJB1EjO2QrWYW9Q1ylZPWtxknT1xFqHkQCrbE1Tw130_assertion;
    np:hasProvenance dgn-np:NP1258345.RAoS2JJB1EjO2QrWYW9Q1ylZPWtxknT1xFqHkQCrbE1Tw130_provenance;
    np:hasPublicationInfo dgn-np:NP1258345.RAoS2JJB1EjO2QrWYW9Q1ylZPWtxknT1xFqHkQCrbE1Tw130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1258345.RAoS2JJB1EjO2QrWYW9Q1ylZPWtxknT1xFqHkQCrbE1Tw130_assertion a np:Assertion .
  
  dgn-np:NP1258345.RAoS2JJB1EjO2QrWYW9Q1ylZPWtxknT1xFqHkQCrbE1Tw130_provenance a np:Provenance .
  
  dgn-np:NP1258345.RAoS2JJB1EjO2QrWYW9Q1ylZPWtxknT1xFqHkQCrbE1Tw130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1258345.RAoS2JJB1EjO2QrWYW9Q1ylZPWtxknT1xFqHkQCrbE1Tw130_assertion {
  miriam-gene:3763 a ncit:C16612 .
  
  lld:C1860787 a ncit:C7057 .
  
  dgn-gda:DGN78707be48c69a124a714e7bc523065a0 sio:SIO_000628 miriam-gene:3763, lld:C1860787;
    a sio:SIO_001121 .
}

dgn-np:NP1258345.RAoS2JJB1EjO2QrWYW9Q1ylZPWtxknT1xFqHkQCrbE1Tw130_provenance {
  dgn-np:NP1258345.RAoS2JJB1EjO2QrWYW9Q1ylZPWtxknT1xFqHkQCrbE1Tw130_assertion dcterms:description
      "[We sequenced the exomes of three unrelated individuals affected by KPLBS and found de novo heterozygous mutations in KCNJ6 (GIRK2), which encodes an inwardly rectifying potassium channel and maps to the Down syndrome critical region between DIRK1A and DSCR4.]. 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:25620207;
    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:NP1258345.RAoS2JJB1EjO2QrWYW9Q1ylZPWtxknT1xFqHkQCrbE1Tw130_publicationInfo {
  this: dcterms:created "2016-05-13T12:51:16+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" .
}