http://rdf.disgenet.org/resource/nanopub/NP946279.RAhQbWG3W73lb4PKpr3kSQafKPEk9S8IvSh-X4wYCUiis130_head http://rdf.disgenet.org/resource/nanopub/NP946279.RAhQbWG3W73lb4PKpr3kSQafKPEk9S8IvSh-X4wYCUiis http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP946279.RAhQbWG3W73lb4PKpr3kSQafKPEk9S8IvSh-X4wYCUiis130_assertion http://rdf.disgenet.org/resource/nanopub/NP946279.RAhQbWG3W73lb4PKpr3kSQafKPEk9S8IvSh-X4wYCUiis http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP946279.RAhQbWG3W73lb4PKpr3kSQafKPEk9S8IvSh-X4wYCUiis130_provenance http://rdf.disgenet.org/resource/nanopub/NP946279.RAhQbWG3W73lb4PKpr3kSQafKPEk9S8IvSh-X4wYCUiis http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP946279.RAhQbWG3W73lb4PKpr3kSQafKPEk9S8IvSh-X4wYCUiis130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP946279.RAhQbWG3W73lb4PKpr3kSQafKPEk9S8IvSh-X4wYCUiis http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP946279.RAhQbWG3W73lb4PKpr3kSQafKPEk9S8IvSh-X4wYCUiis130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP946279.RAhQbWG3W73lb4PKpr3kSQafKPEk9S8IvSh-X4wYCUiis130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP946279.RAhQbWG3W73lb4PKpr3kSQafKPEk9S8IvSh-X4wYCUiis130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP946279.RAhQbWG3W73lb4PKpr3kSQafKPEk9S8IvSh-X4wYCUiis130_assertion http://identifiers.org/ncbigene/79813 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C3714756 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/resource/gda/DGNeafbd7fb01e5b79aca8e3d4f3fe0ad41 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/79813 http://rdf.disgenet.org/resource/gda/DGNeafbd7fb01e5b79aca8e3d4f3fe0ad41 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C3714756 http://rdf.disgenet.org/resource/gda/DGNeafbd7fb01e5b79aca8e3d4f3fe0ad41 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP946279.RAhQbWG3W73lb4PKpr3kSQafKPEk9S8IvSh-X4wYCUiis130_provenance http://rdf.disgenet.org/resource/nanopub/NP946279.RAhQbWG3W73lb4PKpr3kSQafKPEk9S8IvSh-X4wYCUiis130_assertion http://purl.org/dc/terms/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. http://rdf.disgenet.org/resource/nanopub/NP946279.RAhQbWG3W73lb4PKpr3kSQafKPEk9S8IvSh-X4wYCUiis130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP946279.RAhQbWG3W73lb4PKpr3kSQafKPEk9S8IvSh-X4wYCUiis130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/24906019 http://rdf.disgenet.org/resource/nanopub/NP946279.RAhQbWG3W73lb4PKpr3kSQafKPEk9S8IvSh-X4wYCUiis130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP946279.RAhQbWG3W73lb4PKpr3kSQafKPEk9S8IvSh-X4wYCUiis130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000212 http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP946279.RAhQbWG3W73lb4PKpr3kSQafKPEk9S8IvSh-X4wYCUiis130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP946279.RAhQbWG3W73lb4PKpr3kSQafKPEk9S8IvSh-X4wYCUiis http://purl.org/dc/terms/created 2015-08-25T14:47:18+02:00 http://rdf.disgenet.org/resource/nanopub/NP946279.RAhQbWG3W73lb4PKpr3kSQafKPEk9S8IvSh-X4wYCUiis http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP946279.RAhQbWG3W73lb4PKpr3kSQafKPEk9S8IvSh-X4wYCUiis http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP946279.RAhQbWG3W73lb4PKpr3kSQafKPEk9S8IvSh-X4wYCUiis http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP946279.RAhQbWG3W73lb4PKpr3kSQafKPEk9S8IvSh-X4wYCUiis http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP946279.RAhQbWG3W73lb4PKpr3kSQafKPEk9S8IvSh-X4wYCUiis http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP946279.RAhQbWG3W73lb4PKpr3kSQafKPEk9S8IvSh-X4wYCUiis http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP946279.RAhQbWG3W73lb4PKpr3kSQafKPEk9S8IvSh-X4wYCUiis http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP946279.RAhQbWG3W73lb4PKpr3kSQafKPEk9S8IvSh-X4wYCUiis http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP946279.RAhQbWG3W73lb4PKpr3kSQafKPEk9S8IvSh-X4wYCUiis http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP946279.RAhQbWG3W73lb4PKpr3kSQafKPEk9S8IvSh-X4wYCUiis http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP946279.RAhQbWG3W73lb4PKpr3kSQafKPEk9S8IvSh-X4wYCUiis http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0