http://rdf.disgenet.org/resource/nanopub/NP551885.RAMtfc-IAZcVdcKJnlRO3l70RdHBsOshjvKUluncWTY_Q130_head http://rdf.disgenet.org/resource/nanopub/NP551885.RAMtfc-IAZcVdcKJnlRO3l70RdHBsOshjvKUluncWTY_Q http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP551885.RAMtfc-IAZcVdcKJnlRO3l70RdHBsOshjvKUluncWTY_Q130_assertion http://rdf.disgenet.org/resource/nanopub/NP551885.RAMtfc-IAZcVdcKJnlRO3l70RdHBsOshjvKUluncWTY_Q http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP551885.RAMtfc-IAZcVdcKJnlRO3l70RdHBsOshjvKUluncWTY_Q130_provenance http://rdf.disgenet.org/resource/nanopub/NP551885.RAMtfc-IAZcVdcKJnlRO3l70RdHBsOshjvKUluncWTY_Q http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP551885.RAMtfc-IAZcVdcKJnlRO3l70RdHBsOshjvKUluncWTY_Q130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP551885.RAMtfc-IAZcVdcKJnlRO3l70RdHBsOshjvKUluncWTY_Q http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP551885.RAMtfc-IAZcVdcKJnlRO3l70RdHBsOshjvKUluncWTY_Q130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP551885.RAMtfc-IAZcVdcKJnlRO3l70RdHBsOshjvKUluncWTY_Q130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP551885.RAMtfc-IAZcVdcKJnlRO3l70RdHBsOshjvKUluncWTY_Q130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP551885.RAMtfc-IAZcVdcKJnlRO3l70RdHBsOshjvKUluncWTY_Q130_assertion http://identifiers.org/ncbigene/4204 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/C0018817 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/DGN83d50fceceefe4a28978a6b74d9fad98 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4204 http://rdf.disgenet.org/resource/gda/DGN83d50fceceefe4a28978a6b74d9fad98 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0018817 http://rdf.disgenet.org/resource/gda/DGN83d50fceceefe4a28978a6b74d9fad98 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP551885.RAMtfc-IAZcVdcKJnlRO3l70RdHBsOshjvKUluncWTY_Q130_provenance http://rdf.disgenet.org/resource/nanopub/NP551885.RAMtfc-IAZcVdcKJnlRO3l70RdHBsOshjvKUluncWTY_Q130_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/NP551885.RAMtfc-IAZcVdcKJnlRO3l70RdHBsOshjvKUluncWTY_Q130_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/NP551885.RAMtfc-IAZcVdcKJnlRO3l70RdHBsOshjvKUluncWTY_Q130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/24906019 http://rdf.disgenet.org/resource/nanopub/NP551885.RAMtfc-IAZcVdcKJnlRO3l70RdHBsOshjvKUluncWTY_Q130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP551885.RAMtfc-IAZcVdcKJnlRO3l70RdHBsOshjvKUluncWTY_Q130_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/NP551885.RAMtfc-IAZcVdcKJnlRO3l70RdHBsOshjvKUluncWTY_Q130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP551885.RAMtfc-IAZcVdcKJnlRO3l70RdHBsOshjvKUluncWTY_Q http://purl.org/dc/terms/created 2015-08-25T14:43:06+02:00 http://rdf.disgenet.org/resource/nanopub/NP551885.RAMtfc-IAZcVdcKJnlRO3l70RdHBsOshjvKUluncWTY_Q http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP551885.RAMtfc-IAZcVdcKJnlRO3l70RdHBsOshjvKUluncWTY_Q http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP551885.RAMtfc-IAZcVdcKJnlRO3l70RdHBsOshjvKUluncWTY_Q http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP551885.RAMtfc-IAZcVdcKJnlRO3l70RdHBsOshjvKUluncWTY_Q http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP551885.RAMtfc-IAZcVdcKJnlRO3l70RdHBsOshjvKUluncWTY_Q http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP551885.RAMtfc-IAZcVdcKJnlRO3l70RdHBsOshjvKUluncWTY_Q http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP551885.RAMtfc-IAZcVdcKJnlRO3l70RdHBsOshjvKUluncWTY_Q http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP551885.RAMtfc-IAZcVdcKJnlRO3l70RdHBsOshjvKUluncWTY_Q http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP551885.RAMtfc-IAZcVdcKJnlRO3l70RdHBsOshjvKUluncWTY_Q http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP551885.RAMtfc-IAZcVdcKJnlRO3l70RdHBsOshjvKUluncWTY_Q http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP551885.RAMtfc-IAZcVdcKJnlRO3l70RdHBsOshjvKUluncWTY_Q 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