@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP542128.RAfToNPSB7ads3lYAp_Q5HPaMn7yCwzmoqFby_TKaWrLw> .
@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:NP542128.RAfToNPSB7ads3lYAp_Q5HPaMn7yCwzmoqFby_TKaWrLw130_head {
  this: np:hasAssertion dgn-np:NP542128.RAfToNPSB7ads3lYAp_Q5HPaMn7yCwzmoqFby_TKaWrLw130_assertion;
    np:hasProvenance dgn-np:NP542128.RAfToNPSB7ads3lYAp_Q5HPaMn7yCwzmoqFby_TKaWrLw130_provenance;
    np:hasPublicationInfo dgn-np:NP542128.RAfToNPSB7ads3lYAp_Q5HPaMn7yCwzmoqFby_TKaWrLw130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP542128.RAfToNPSB7ads3lYAp_Q5HPaMn7yCwzmoqFby_TKaWrLw130_assertion a np:Assertion .
  
  dgn-np:NP542128.RAfToNPSB7ads3lYAp_Q5HPaMn7yCwzmoqFby_TKaWrLw130_provenance a np:Provenance .
  
  dgn-np:NP542128.RAfToNPSB7ads3lYAp_Q5HPaMn7yCwzmoqFby_TKaWrLw130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP542128.RAfToNPSB7ads3lYAp_Q5HPaMn7yCwzmoqFby_TKaWrLw130_assertion {
  miriam-gene:1756 a ncit:C16612 .
  
  lld:C0686353 a ncit:C7057 .
  
  dgn-gda:DGN52530caba9e82324e03330a30b604508 sio:SIO_000628 miriam-gene:1756, lld:C0686353;
    a sio:SIO_001121 .
}

dgn-np:NP542128.RAfToNPSB7ads3lYAp_Q5HPaMn7yCwzmoqFby_TKaWrLw130_provenance {
  dgn-np:NP542128.RAfToNPSB7ads3lYAp_Q5HPaMn7yCwzmoqFby_TKaWrLw130_assertion dcterms:description
      "[We report generalized convulsive epilepsy in a boy with normal brain magnetic resonance imaging and Duchenne muscular dystrophy with deletion of dystrophin gene, and we report absence epilepsy with normal brain magnetic resonance imaging in another boy with limb girdle muscular dystrophy with partial calpain deficiency.]. 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:16566880;
    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:NP542128.RAfToNPSB7ads3lYAp_Q5HPaMn7yCwzmoqFby_TKaWrLw130_publicationInfo {
  this: dcterms:created "2016-05-13T12:45:50+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" .
}