@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP338513.RAUtU6gsQIbE5PBvUm5efHxccTbZOdgCwT8O2332wm76c> .
@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:NP338513.RAUtU6gsQIbE5PBvUm5efHxccTbZOdgCwT8O2332wm76c130_head {
  this: np:hasAssertion dgn-np:NP338513.RAUtU6gsQIbE5PBvUm5efHxccTbZOdgCwT8O2332wm76c130_assertion;
    np:hasProvenance dgn-np:NP338513.RAUtU6gsQIbE5PBvUm5efHxccTbZOdgCwT8O2332wm76c130_provenance;
    np:hasPublicationInfo dgn-np:NP338513.RAUtU6gsQIbE5PBvUm5efHxccTbZOdgCwT8O2332wm76c130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP338513.RAUtU6gsQIbE5PBvUm5efHxccTbZOdgCwT8O2332wm76c130_assertion a np:Assertion .
  
  dgn-np:NP338513.RAUtU6gsQIbE5PBvUm5efHxccTbZOdgCwT8O2332wm76c130_provenance a np:Provenance .
  
  dgn-np:NP338513.RAUtU6gsQIbE5PBvUm5efHxccTbZOdgCwT8O2332wm76c130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP338513.RAUtU6gsQIbE5PBvUm5efHxccTbZOdgCwT8O2332wm76c130_assertion {
  miriam-gene:4204 a ncit:C16612 .
  
  lld:C0035372 a ncit:C7057 .
  
  dgn-gda:DGNf6311c22dadf3a6c5103020fe0aeb05e sio:SIO_000628 miriam-gene:4204, lld:C0035372;
    a sio:SIO_001121 .
}

dgn-np:NP338513.RAUtU6gsQIbE5PBvUm5efHxccTbZOdgCwT8O2332wm76c130_provenance {
  dgn-np:NP338513.RAUtU6gsQIbE5PBvUm5efHxccTbZOdgCwT8O2332wm76c130_assertion dcterms:description
      "[The patient presented here was clinically diagnosed with RTT at the age of 66 years and now the presence of one of the common missense mutations in MECP2 has been demonstrated.]. 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:11738879;
    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:NP338513.RAUtU6gsQIbE5PBvUm5efHxccTbZOdgCwT8O2332wm76c130_publicationInfo {
  this: dcterms:created "2016-05-13T12:44:18+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" .
}