http://rdf.disgenet.org/resource/nanopub/NP303001.RAtkWhw_312cOUctMIxp91IuO1aC5i7hNqfw9DaoAoDhY#head http://rdf.disgenet.org/resource/nanopub/NP303001.RAtkWhw_312cOUctMIxp91IuO1aC5i7hNqfw9DaoAoDhY http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP303001.RAtkWhw_312cOUctMIxp91IuO1aC5i7hNqfw9DaoAoDhY#assertion http://rdf.disgenet.org/resource/nanopub/NP303001.RAtkWhw_312cOUctMIxp91IuO1aC5i7hNqfw9DaoAoDhY http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP303001.RAtkWhw_312cOUctMIxp91IuO1aC5i7hNqfw9DaoAoDhY#provenance http://rdf.disgenet.org/resource/nanopub/NP303001.RAtkWhw_312cOUctMIxp91IuO1aC5i7hNqfw9DaoAoDhY http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP303001.RAtkWhw_312cOUctMIxp91IuO1aC5i7hNqfw9DaoAoDhY#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP303001.RAtkWhw_312cOUctMIxp91IuO1aC5i7hNqfw9DaoAoDhY http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP303001.RAtkWhw_312cOUctMIxp91IuO1aC5i7hNqfw9DaoAoDhY#assertion http://rdf.disgenet.org/resource/gda/DGN6bba6fab19b6b5b0977b1a4b1d6bdac0 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1826 http://rdf.disgenet.org/resource/gda/DGN6bba6fab19b6b5b0977b1a4b1d6bdac0 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0004352 http://rdf.disgenet.org/resource/gda/DGN6bba6fab19b6b5b0977b1a4b1d6bdac0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP303001.RAtkWhw_312cOUctMIxp91IuO1aC5i7hNqfw9DaoAoDhY#provenance http://rdf.disgenet.org/resource/nanopub/NP303001.RAtkWhw_312cOUctMIxp91IuO1aC5i7hNqfw9DaoAoDhY#assertion http://purl.org/dc/terms/description [This effect was only observed within 50 kb of genes that have been previously associated with autism risk, including genes where dosage sensitivity has already been established by recurrent disruptive de novo protein-coding mutations (ARID1B, SCN2A, NR3C2, PRKCA, and DSCAM).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP303001.RAtkWhw_312cOUctMIxp91IuO1aC5i7hNqfw9DaoAoDhY#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP303001.RAtkWhw_312cOUctMIxp91IuO1aC5i7hNqfw9DaoAoDhY#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/26749308 http://rdf.disgenet.org/resource/nanopub/NP303001.RAtkWhw_312cOUctMIxp91IuO1aC5i7hNqfw9DaoAoDhY#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP303001.RAtkWhw_312cOUctMIxp91IuO1aC5i7hNqfw9DaoAoDhY#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/BEFREE http://purl.org/pav/importedOn 2017-02-19 http://rdf.disgenet.org/v5.0.0/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/v5.0.0/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/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP303001.RAtkWhw_312cOUctMIxp91IuO1aC5i7hNqfw9DaoAoDhY#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP303001.RAtkWhw_312cOUctMIxp91IuO1aC5i7hNqfw9DaoAoDhY http://purl.org/dc/terms/created 2017-10-17T13:12:06+02:00 http://rdf.disgenet.org/resource/nanopub/NP303001.RAtkWhw_312cOUctMIxp91IuO1aC5i7hNqfw9DaoAoDhY http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP303001.RAtkWhw_312cOUctMIxp91IuO1aC5i7hNqfw9DaoAoDhY http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP303001.RAtkWhw_312cOUctMIxp91IuO1aC5i7hNqfw9DaoAoDhY http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP303001.RAtkWhw_312cOUctMIxp91IuO1aC5i7hNqfw9DaoAoDhY http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP303001.RAtkWhw_312cOUctMIxp91IuO1aC5i7hNqfw9DaoAoDhY http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP303001.RAtkWhw_312cOUctMIxp91IuO1aC5i7hNqfw9DaoAoDhY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP303001.RAtkWhw_312cOUctMIxp91IuO1aC5i7hNqfw9DaoAoDhY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP303001.RAtkWhw_312cOUctMIxp91IuO1aC5i7hNqfw9DaoAoDhY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP303001.RAtkWhw_312cOUctMIxp91IuO1aC5i7hNqfw9DaoAoDhY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP303001.RAtkWhw_312cOUctMIxp91IuO1aC5i7hNqfw9DaoAoDhY http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP303001.RAtkWhw_312cOUctMIxp91IuO1aC5i7hNqfw9DaoAoDhY http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0