@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP461721.RA-2-snhl6Uryqg-YKQ9GDJtUP7MbSc5hplpYZBGsrA0w> .
@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:NP461721.RA-2-snhl6Uryqg-YKQ9GDJtUP7MbSc5hplpYZBGsrA0w130_head {
  this: np:hasAssertion dgn-np:NP461721.RA-2-snhl6Uryqg-YKQ9GDJtUP7MbSc5hplpYZBGsrA0w130_assertion;
    np:hasProvenance dgn-np:NP461721.RA-2-snhl6Uryqg-YKQ9GDJtUP7MbSc5hplpYZBGsrA0w130_provenance;
    np:hasPublicationInfo dgn-np:NP461721.RA-2-snhl6Uryqg-YKQ9GDJtUP7MbSc5hplpYZBGsrA0w130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP461721.RA-2-snhl6Uryqg-YKQ9GDJtUP7MbSc5hplpYZBGsrA0w130_assertion a np:Assertion .
  
  dgn-np:NP461721.RA-2-snhl6Uryqg-YKQ9GDJtUP7MbSc5hplpYZBGsrA0w130_provenance a np:Provenance .
  
  dgn-np:NP461721.RA-2-snhl6Uryqg-YKQ9GDJtUP7MbSc5hplpYZBGsrA0w130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP461721.RA-2-snhl6Uryqg-YKQ9GDJtUP7MbSc5hplpYZBGsrA0w130_assertion {
  miriam-gene:8910 a ncit:C16612 .
  
  lld:C1834570 a ncit:C7057 .
  
  dgn-gda:DGN6bbb587955410d6140b05fc274290a7c sio:SIO_000628 miriam-gene:8910, lld:C1834570;
    a sio:SIO_001122 .
}

dgn-np:NP461721.RA-2-snhl6Uryqg-YKQ9GDJtUP7MbSc5hplpYZBGsrA0w130_provenance {
  dgn-np:NP461721.RA-2-snhl6Uryqg-YKQ9GDJtUP7MbSc5hplpYZBGsrA0w130_assertion dcterms:description
      "[We report on the second M-D family in which several clinically affected epsilon-sarcoglycan gene (SGCE) mutation carriers have seizures in addition to myoclonus and dystonia, adding to the evidence that epilepsy and EEG abnormalities may form part of the phenotypic spectrum of the condition.]. 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:15389977;
    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:NP461721.RA-2-snhl6Uryqg-YKQ9GDJtUP7MbSc5hplpYZBGsrA0w130_publicationInfo {
  this: dcterms:created "2016-05-13T12:45:14+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: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" .
}