@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP769500.RASm2ATRxUhAiJuOPFrZoL5NnmwA_HEcae0sJCBYcP3KA> .
@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:NP769500.RASm2ATRxUhAiJuOPFrZoL5NnmwA_HEcae0sJCBYcP3KA130_head {
  this: np:hasAssertion dgn-np:NP769500.RASm2ATRxUhAiJuOPFrZoL5NnmwA_HEcae0sJCBYcP3KA130_assertion;
    np:hasProvenance dgn-np:NP769500.RASm2ATRxUhAiJuOPFrZoL5NnmwA_HEcae0sJCBYcP3KA130_provenance;
    np:hasPublicationInfo dgn-np:NP769500.RASm2ATRxUhAiJuOPFrZoL5NnmwA_HEcae0sJCBYcP3KA130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP769500.RASm2ATRxUhAiJuOPFrZoL5NnmwA_HEcae0sJCBYcP3KA130_assertion a np:Assertion .
  
  dgn-np:NP769500.RASm2ATRxUhAiJuOPFrZoL5NnmwA_HEcae0sJCBYcP3KA130_provenance a np:Provenance .
  
  dgn-np:NP769500.RASm2ATRxUhAiJuOPFrZoL5NnmwA_HEcae0sJCBYcP3KA130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP769500.RASm2ATRxUhAiJuOPFrZoL5NnmwA_HEcae0sJCBYcP3KA130_assertion {
  miriam-gene:6323 a ncit:C16612 .
  
  lld:C0014550 a ncit:C7057 .
  
  dgn-gda:DGNd365f71c7ad092ca1d915785fe499fd8 sio:SIO_000628 miriam-gene:6323, lld:C0014550;
    a sio:SIO_001121 .
}

dgn-np:NP769500.RASm2ATRxUhAiJuOPFrZoL5NnmwA_HEcae0sJCBYcP3KA130_provenance {
  dgn-np:NP769500.RASm2ATRxUhAiJuOPFrZoL5NnmwA_HEcae0sJCBYcP3KA130_assertion dcterms:description
      "[De novo mutations in SCN1A in sporadic Dravet syndrome and germline mutations in SCN1A, SCN1B, and SCN2A in generalized epilepsies with febrile seizures plus have unraveled the heterogenous myoclonic epilepsies of infancy and early childhood.]. 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:16302874;
    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:NP769500.RASm2ATRxUhAiJuOPFrZoL5NnmwA_HEcae0sJCBYcP3KA130_publicationInfo {
  this: dcterms:created "2014-10-02T12:39:45+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" .
}