@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP765040.RAQTIAgX855PXefPmFQz9HfOR6zrAHrt0B0VQUPasxdxg> .
@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/v3.0.0/void/> .
dgn-np:NP765040.RAQTIAgX855PXefPmFQz9HfOR6zrAHrt0B0VQUPasxdxg130_head {
   this: np:hasAssertion dgn-np:NP765040.RAQTIAgX855PXefPmFQz9HfOR6zrAHrt0B0VQUPasxdxg130_assertion ;
    np:hasProvenance dgn-np:NP765040.RAQTIAgX855PXefPmFQz9HfOR6zrAHrt0B0VQUPasxdxg130_provenance ;
    np:hasPublicationInfo dgn-np:NP765040.RAQTIAgX855PXefPmFQz9HfOR6zrAHrt0B0VQUPasxdxg130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP765040.RAQTIAgX855PXefPmFQz9HfOR6zrAHrt0B0VQUPasxdxg130_assertion a np:Assertion .
  dgn-np:NP765040.RAQTIAgX855PXefPmFQz9HfOR6zrAHrt0B0VQUPasxdxg130_provenance a np:Provenance .
  dgn-np:NP765040.RAQTIAgX855PXefPmFQz9HfOR6zrAHrt0B0VQUPasxdxg130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP765040.RAQTIAgX855PXefPmFQz9HfOR6zrAHrt0B0VQUPasxdxg130_assertion {
   miriam-gene:7337 a ncit:C16612 .
  lld:C1510586 a ncit:C7057 .
  dgn-gda:DGNb4948886086d5c0ca4cdbba9309312ae sio:SIO_000628 miriam-gene:7337 , lld:C1510586 ;
    a sio:SIO_001121 .
}
dgn-np:NP765040.RAQTIAgX855PXefPmFQz9HfOR6zrAHrt0B0VQUPasxdxg130_provenance {
   dgn-np:NP765040.RAQTIAgX855PXefPmFQz9HfOR6zrAHrt0B0VQUPasxdxg130_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 &lt; 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-20150227 ;
    prov:wasGeneratedBy eco:ECO_0000203 .
  dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP765040.RAQTIAgX855PXefPmFQz9HfOR6zrAHrt0B0VQUPasxdxg130_publicationInfo {
   this: dcterms:created "2015-08-25T14:45:22+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 "v3.0.0.0" .
  dgn-void:disgenetv3.0rdf pav:version "v3.0.0" .
}