http://rdf.disgenet.org/resource/nanopub/NP1189530.RAEdW4_-n1_FR45aHHhSpZTX8g5EmQc5Zqp43Eo1Or8bQ130_head
http://rdf.disgenet.org/resource/nanopub/NP1189530.RAEdW4_-n1_FR45aHHhSpZTX8g5EmQc5Zqp43Eo1Or8bQ
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1189530.RAEdW4_-n1_FR45aHHhSpZTX8g5EmQc5Zqp43Eo1Or8bQ130_assertion
http://rdf.disgenet.org/resource/nanopub/NP1189530.RAEdW4_-n1_FR45aHHhSpZTX8g5EmQc5Zqp43Eo1Or8bQ
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1189530.RAEdW4_-n1_FR45aHHhSpZTX8g5EmQc5Zqp43Eo1Or8bQ130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1189530.RAEdW4_-n1_FR45aHHhSpZTX8g5EmQc5Zqp43Eo1Or8bQ
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1189530.RAEdW4_-n1_FR45aHHhSpZTX8g5EmQc5Zqp43Eo1Or8bQ130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1189530.RAEdW4_-n1_FR45aHHhSpZTX8g5EmQc5Zqp43Eo1Or8bQ
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1189530.RAEdW4_-n1_FR45aHHhSpZTX8g5EmQc5Zqp43Eo1Or8bQ130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP1189530.RAEdW4_-n1_FR45aHHhSpZTX8g5EmQc5Zqp43Eo1Or8bQ130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP1189530.RAEdW4_-n1_FR45aHHhSpZTX8g5EmQc5Zqp43Eo1Or8bQ130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1189530.RAEdW4_-n1_FR45aHHhSpZTX8g5EmQc5Zqp43Eo1Or8bQ130_assertion
http://identifiers.org/ncbigene/9369
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/DGN8acbbff60e31ca20356e25731eeea92f
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/9369
http://rdf.disgenet.org/resource/gda/DGN8acbbff60e31ca20356e25731eeea92f
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C3714756
http://rdf.disgenet.org/resource/gda/DGN8acbbff60e31ca20356e25731eeea92f
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP1189530.RAEdW4_-n1_FR45aHHhSpZTX8g5EmQc5Zqp43Eo1Or8bQ130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1189530.RAEdW4_-n1_FR45aHHhSpZTX8g5EmQc5Zqp43Eo1Or8bQ130_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/NP1189530.RAEdW4_-n1_FR45aHHhSpZTX8g5EmQc5Zqp43Eo1Or8bQ130_assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature
http://rdf.disgenet.org/resource/nanopub/NP1189530.RAEdW4_-n1_FR45aHHhSpZTX8g5EmQc5Zqp43Eo1Or8bQ130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/24906019
http://rdf.disgenet.org/resource/nanopub/NP1189530.RAEdW4_-n1_FR45aHHhSpZTX8g5EmQc5Zqp43Eo1Or8bQ130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://rdf.disgenet.org/resource/nanopub/NP1189530.RAEdW4_-n1_FR45aHHhSpZTX8g5EmQc5Zqp43Eo1Or8bQ130_assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://purl.org/pav/importedOn
2016-02-19
http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/resource/nanopub/NP1189530.RAEdW4_-n1_FR45aHHhSpZTX8g5EmQc5Zqp43Eo1Or8bQ130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1189530.RAEdW4_-n1_FR45aHHhSpZTX8g5EmQc5Zqp43Eo1Or8bQ
http://purl.org/dc/terms/created
2016-05-13T12:50:45+02:00
http://rdf.disgenet.org/resource/nanopub/NP1189530.RAEdW4_-n1_FR45aHHhSpZTX8g5EmQc5Zqp43Eo1Or8bQ
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1189530.RAEdW4_-n1_FR45aHHhSpZTX8g5EmQc5Zqp43Eo1Or8bQ
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v4.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1189530.RAEdW4_-n1_FR45aHHhSpZTX8g5EmQc5Zqp43Eo1Or8bQ
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1189530.RAEdW4_-n1_FR45aHHhSpZTX8g5EmQc5Zqp43Eo1Or8bQ
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1189530.RAEdW4_-n1_FR45aHHhSpZTX8g5EmQc5Zqp43Eo1Or8bQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1189530.RAEdW4_-n1_FR45aHHhSpZTX8g5EmQc5Zqp43Eo1Or8bQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1189530.RAEdW4_-n1_FR45aHHhSpZTX8g5EmQc5Zqp43Eo1Or8bQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1189530.RAEdW4_-n1_FR45aHHhSpZTX8g5EmQc5Zqp43Eo1Or8bQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1189530.RAEdW4_-n1_FR45aHHhSpZTX8g5EmQc5Zqp43Eo1Or8bQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1189530.RAEdW4_-n1_FR45aHHhSpZTX8g5EmQc5Zqp43Eo1Or8bQ
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1189530.RAEdW4_-n1_FR45aHHhSpZTX8g5EmQc5Zqp43Eo1Or8bQ
http://purl.org/pav/version
v4.0.0.0
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://purl.org/pav/version
v4.0.0