@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP128809.RAVgeAx8R1NFBlLTu9XMMpsjvIUS5Slo6IsnHipJ0dLms> .
@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:NP128809.RAVgeAx8R1NFBlLTu9XMMpsjvIUS5Slo6IsnHipJ0dLms130_head {
  this: np:hasAssertion dgn-np:NP128809.RAVgeAx8R1NFBlLTu9XMMpsjvIUS5Slo6IsnHipJ0dLms130_assertion;
    np:hasProvenance dgn-np:NP128809.RAVgeAx8R1NFBlLTu9XMMpsjvIUS5Slo6IsnHipJ0dLms130_provenance;
    np:hasPublicationInfo dgn-np:NP128809.RAVgeAx8R1NFBlLTu9XMMpsjvIUS5Slo6IsnHipJ0dLms130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP128809.RAVgeAx8R1NFBlLTu9XMMpsjvIUS5Slo6IsnHipJ0dLms130_assertion a np:Assertion .
  
  dgn-np:NP128809.RAVgeAx8R1NFBlLTu9XMMpsjvIUS5Slo6IsnHipJ0dLms130_provenance a np:Provenance .
  
  dgn-np:NP128809.RAVgeAx8R1NFBlLTu9XMMpsjvIUS5Slo6IsnHipJ0dLms130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP128809.RAVgeAx8R1NFBlLTu9XMMpsjvIUS5Slo6IsnHipJ0dLms130_assertion {
  miriam-gene:6792 a ncit:C16612 .
  
  lld:C0036572 a ncit:C7057 .
  
  dgn-gda:DGNade6f8c614ae5bf925125e14bdb06a9c sio:SIO_000628 miriam-gene:6792, lld:C0036572;
    a sio:SIO_001122 .
}

dgn-np:NP128809.RAVgeAx8R1NFBlLTu9XMMpsjvIUS5Slo6IsnHipJ0dLms130_provenance {
  dgn-np:NP128809.RAVgeAx8R1NFBlLTu9XMMpsjvIUS5Slo6IsnHipJ0dLms130_assertion dcterms:description
      "[novel pathogenic CDKL5 mutations were identified in three girls, two of whom had initially been diagnosed with the early onset seizure variant of Rett Syndrome (RTT) and the other with early onset seizures and some features of RTT ]. 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:16015284;
    prov:wasDerivedFrom dgn-void:lhgdn-20090331;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:lhgdn-20090331 pav:importedOn "2009-03-31"^^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:NP128809.RAVgeAx8R1NFBlLTu9XMMpsjvIUS5Slo6IsnHipJ0dLms130_publicationInfo {
  this: dcterms:created "2014-10-02T12:33:07+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" .
}