@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP396804.RAVLBz0YmyprGHaMpugcVW_uBhnivwQsVuKG12_YUlPmg> .
@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:NP396804.RAVLBz0YmyprGHaMpugcVW_uBhnivwQsVuKG12_YUlPmg130_head {
  this: np:hasAssertion dgn-np:NP396804.RAVLBz0YmyprGHaMpugcVW_uBhnivwQsVuKG12_YUlPmg130_assertion ;
    np:hasProvenance dgn-np:NP396804.RAVLBz0YmyprGHaMpugcVW_uBhnivwQsVuKG12_YUlPmg130_provenance ;
    np:hasPublicationInfo dgn-np:NP396804.RAVLBz0YmyprGHaMpugcVW_uBhnivwQsVuKG12_YUlPmg130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP396804.RAVLBz0YmyprGHaMpugcVW_uBhnivwQsVuKG12_YUlPmg130_assertion a np:Assertion .
  dgn-np:NP396804.RAVLBz0YmyprGHaMpugcVW_uBhnivwQsVuKG12_YUlPmg130_provenance a np:Provenance .
  dgn-np:NP396804.RAVLBz0YmyprGHaMpugcVW_uBhnivwQsVuKG12_YUlPmg130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP396804.RAVLBz0YmyprGHaMpugcVW_uBhnivwQsVuKG12_YUlPmg130_assertion {
  miriam-gene:7248 a ncit:C16612 .
  lld:C1510586 a ncit:C7057 .
  dgn-gda:DGN2ffa4a4537ada673dce1bfe27950ec5a sio:SIO_000628 miriam-gene:7248 , lld:C1510586 ;
    a sio:SIO_001121 .
}
dgn-np:NP396804.RAVLBz0YmyprGHaMpugcVW_uBhnivwQsVuKG12_YUlPmg130_provenance {
  dgn-np:NP396804.RAVLBz0YmyprGHaMpugcVW_uBhnivwQsVuKG12_YUlPmg130_assertion dcterms:description "[Screening of a control population for novel coding variants in CACNA1C, CDKL5, HOXA1, SHANK3, TSC1, TSC2 and UBE3A by the same sequencing technology revealed that controls were carriers of oligogenic heterozygous events at significantly (P < 0.01) lower rate, suggesting oligogenic heterozygosity as a new potential mechanism in the pathogenesis of ASDs.]. 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:21624971 ;
    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:NP396804.RAVLBz0YmyprGHaMpugcVW_uBhnivwQsVuKG12_YUlPmg130_publicationInfo {
  this: dcterms:created "2014-10-02T12:35:56+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" .
}