@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP640453.RAuIITVmPfo0kAvnx4fhyeF9mYJSITKm7ijIy_LAHC8Ak> .
@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:NP640453.RAuIITVmPfo0kAvnx4fhyeF9mYJSITKm7ijIy_LAHC8Ak130_head {
  this: np:hasAssertion dgn-np:NP640453.RAuIITVmPfo0kAvnx4fhyeF9mYJSITKm7ijIy_LAHC8Ak130_assertion;
    np:hasProvenance dgn-np:NP640453.RAuIITVmPfo0kAvnx4fhyeF9mYJSITKm7ijIy_LAHC8Ak130_provenance;
    np:hasPublicationInfo dgn-np:NP640453.RAuIITVmPfo0kAvnx4fhyeF9mYJSITKm7ijIy_LAHC8Ak130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP640453.RAuIITVmPfo0kAvnx4fhyeF9mYJSITKm7ijIy_LAHC8Ak130_assertion a np:Assertion .
  
  dgn-np:NP640453.RAuIITVmPfo0kAvnx4fhyeF9mYJSITKm7ijIy_LAHC8Ak130_provenance a np:Provenance .
  
  dgn-np:NP640453.RAuIITVmPfo0kAvnx4fhyeF9mYJSITKm7ijIy_LAHC8Ak130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP640453.RAuIITVmPfo0kAvnx4fhyeF9mYJSITKm7ijIy_LAHC8Ak130_assertion {
  miriam-gene:6326 a ncit:C16612 .
  
  lld:C0004352 a ncit:C7057 .
  
  dgn-gda:DGNb1daae93b48032d16f0058b3351980db sio:SIO_000628 miriam-gene:6326, lld:C0004352;
    a sio:SIO_001121 .
}

dgn-np:NP640453.RAuIITVmPfo0kAvnx4fhyeF9mYJSITKm7ijIy_LAHC8Ak130_provenance {
  dgn-np:NP640453.RAuIITVmPfo0kAvnx4fhyeF9mYJSITKm7ijIy_LAHC8Ak130_assertion dcterms:description
      "[We discuss the effects of haploinsufficiency of SCN2A and SCN3A on the genetic basis of neurodevelopmental and neurobehavioral disorders and we propose that this haploinsufficiency may be associated not only with epilepsy, but also with autistic features.]. 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:24080482;
    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:NP640453.RAuIITVmPfo0kAvnx4fhyeF9mYJSITKm7ijIy_LAHC8Ak130_publicationInfo {
  this: dcterms:created "2014-10-02T12:38:26+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" .
}