@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP570295.RArewTnoqLjPwelvNcrTvWK2KshoHNy2xVq1Guq5kXw7c> .
@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:NP570295.RArewTnoqLjPwelvNcrTvWK2KshoHNy2xVq1Guq5kXw7c130_head {
  this: np:hasAssertion dgn-np:NP570295.RArewTnoqLjPwelvNcrTvWK2KshoHNy2xVq1Guq5kXw7c130_assertion;
    np:hasProvenance dgn-np:NP570295.RArewTnoqLjPwelvNcrTvWK2KshoHNy2xVq1Guq5kXw7c130_provenance;
    np:hasPublicationInfo dgn-np:NP570295.RArewTnoqLjPwelvNcrTvWK2KshoHNy2xVq1Guq5kXw7c130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP570295.RArewTnoqLjPwelvNcrTvWK2KshoHNy2xVq1Guq5kXw7c130_assertion a np:Assertion .
  
  dgn-np:NP570295.RArewTnoqLjPwelvNcrTvWK2KshoHNy2xVq1Guq5kXw7c130_provenance a np:Provenance .
  
  dgn-np:NP570295.RArewTnoqLjPwelvNcrTvWK2KshoHNy2xVq1Guq5kXw7c130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP570295.RArewTnoqLjPwelvNcrTvWK2KshoHNy2xVq1Guq5kXw7c130_assertion {
  miriam-gene:7412 a ncit:C16612 .
  
  lld:C0025362 a ncit:C7057 .
  
  dgn-gda:DGN718b6a2e6d60c2db0ed9d7a500b8b7ff sio:SIO_000628 miriam-gene:7412, lld:C0025362;
    a sio:SIO_001121 .
}

dgn-np:NP570295.RArewTnoqLjPwelvNcrTvWK2KshoHNy2xVq1Guq5kXw7c130_provenance {
  dgn-np:NP570295.RArewTnoqLjPwelvNcrTvWK2KshoHNy2xVq1Guq5kXw7c130_assertion dcterms:description
      "[The finding of a significant number of copy number polymorphisms in the genome in the normal population, means that assigning pathogenicity to deletions and duplications in patients with mental retardation can be difficult but has been identified for duplications of MECP2 and L1CAM.]. 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:16987873;
    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:NP570295.RArewTnoqLjPwelvNcrTvWK2KshoHNy2xVq1Guq5kXw7c130_publicationInfo {
  this: dcterms:created "2016-05-13T12:46:03+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" .
}