dgn-np:NP552242.RAI8ncjnQFcwpImkF8wL73JOcx1xq3ti9vMyuMlMolADs130_provenance {
  dgn-np:NP552242.RAI8ncjnQFcwpImkF8wL73JOcx1xq3ti9vMyuMlMolADs130_assertion dcterms:description "[Overall, 16p11.2 CNV was associated with altered expression of genes and networks that converge on multiple hypotheses of ASD pathogenesis, including synaptic function (e.g., NRXN1, NRXN3), chromatin modification (e.g., CHD8, EHMT1, MECP2), transcriptional regulation (e.g., TCF4, SATB2), and intellectual disability (e.g., FMR1, CEP290).]. 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:24906019 ;
    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 .
}