@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP240383.RA1CyRWYEpBCue6e5IO62HiKx3uh2ywwNYReHLKzIuinY> .
@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:NP240383.RA1CyRWYEpBCue6e5IO62HiKx3uh2ywwNYReHLKzIuinY130_head {
  this: np:hasAssertion dgn-np:NP240383.RA1CyRWYEpBCue6e5IO62HiKx3uh2ywwNYReHLKzIuinY130_assertion;
    np:hasProvenance dgn-np:NP240383.RA1CyRWYEpBCue6e5IO62HiKx3uh2ywwNYReHLKzIuinY130_provenance;
    np:hasPublicationInfo dgn-np:NP240383.RA1CyRWYEpBCue6e5IO62HiKx3uh2ywwNYReHLKzIuinY130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP240383.RA1CyRWYEpBCue6e5IO62HiKx3uh2ywwNYReHLKzIuinY130_assertion a np:Assertion .
  
  dgn-np:NP240383.RA1CyRWYEpBCue6e5IO62HiKx3uh2ywwNYReHLKzIuinY130_provenance a np:Provenance .
  
  dgn-np:NP240383.RA1CyRWYEpBCue6e5IO62HiKx3uh2ywwNYReHLKzIuinY130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP240383.RA1CyRWYEpBCue6e5IO62HiKx3uh2ywwNYReHLKzIuinY130_assertion {
  miriam-gene:4204 a ncit:C16612 .
  
  lld:C0344482 a ncit:C7057 .
  
  dgn-gda:DGN1e91ff395ec60ab84fc1dab39361596d sio:SIO_000628 miriam-gene:4204, lld:C0344482;
    a sio:SIO_001121 .
}

dgn-np:NP240383.RA1CyRWYEpBCue6e5IO62HiKx3uh2ywwNYReHLKzIuinY130_provenance {
  dgn-np:NP240383.RA1CyRWYEpBCue6e5IO62HiKx3uh2ywwNYReHLKzIuinY130_assertion dcterms:description
      "[Additionally, brain magnetic resonance imaging (MRI) showed characteristic findings in each patient, including frontal dominant brain atrophy and hypoplasia of the corpus callosum, which are common findings in patients with functional disomies of Xq28 and interstitial duplications of Xq28, including MECP2.]. 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:23704079;
    prov:wasDerivedFrom dgn-void:befree-20140225;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP240383.RA1CyRWYEpBCue6e5IO62HiKx3uh2ywwNYReHLKzIuinY130_publicationInfo {
  this: dcterms:created "2014-10-02T12:34:14+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" .
}