http://rdf.disgenet.org/resource/nanopub/NP516562.RAvUuqrm1fuws-OgIA33Xd1KXj_fvGYykDX49om10wzqM130_head http://rdf.disgenet.org/resource/nanopub/NP516562.RAvUuqrm1fuws-OgIA33Xd1KXj_fvGYykDX49om10wzqM http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP516562.RAvUuqrm1fuws-OgIA33Xd1KXj_fvGYykDX49om10wzqM130_assertion http://rdf.disgenet.org/resource/nanopub/NP516562.RAvUuqrm1fuws-OgIA33Xd1KXj_fvGYykDX49om10wzqM http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP516562.RAvUuqrm1fuws-OgIA33Xd1KXj_fvGYykDX49om10wzqM130_provenance http://rdf.disgenet.org/resource/nanopub/NP516562.RAvUuqrm1fuws-OgIA33Xd1KXj_fvGYykDX49om10wzqM http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP516562.RAvUuqrm1fuws-OgIA33Xd1KXj_fvGYykDX49om10wzqM130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP516562.RAvUuqrm1fuws-OgIA33Xd1KXj_fvGYykDX49om10wzqM http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP516562.RAvUuqrm1fuws-OgIA33Xd1KXj_fvGYykDX49om10wzqM130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP516562.RAvUuqrm1fuws-OgIA33Xd1KXj_fvGYykDX49om10wzqM130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP516562.RAvUuqrm1fuws-OgIA33Xd1KXj_fvGYykDX49om10wzqM130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP516562.RAvUuqrm1fuws-OgIA33Xd1KXj_fvGYykDX49om10wzqM130_assertion http://identifiers.org/ncbigene/3676 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/C0233715 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/DGN6c7e33a7a75e0840caf24684cde7c088 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3676 http://rdf.disgenet.org/resource/gda/DGN6c7e33a7a75e0840caf24684cde7c088 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0233715 http://rdf.disgenet.org/resource/gda/DGN6c7e33a7a75e0840caf24684cde7c088 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP516562.RAvUuqrm1fuws-OgIA33Xd1KXj_fvGYykDX49om10wzqM130_provenance http://rdf.disgenet.org/resource/nanopub/NP516562.RAvUuqrm1fuws-OgIA33Xd1KXj_fvGYykDX49om10wzqM130_assertion http://purl.org/dc/terms/description [The critical region points to a few genes, namely NEUROD1, ZNF804A, PDE1A, and ITGA4, which are good candidates to explain the cognitive and behavioural phenotype, as well as the severe speech impairment associated with the 2q31.2q32.3 deletion.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP516562.RAvUuqrm1fuws-OgIA33Xd1KXj_fvGYykDX49om10wzqM130_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/NP516562.RAvUuqrm1fuws-OgIA33Xd1KXj_fvGYykDX49om10wzqM130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20552675 http://rdf.disgenet.org/resource/nanopub/NP516562.RAvUuqrm1fuws-OgIA33Xd1KXj_fvGYykDX49om10wzqM130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP516562.RAvUuqrm1fuws-OgIA33Xd1KXj_fvGYykDX49om10wzqM130_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/NP516562.RAvUuqrm1fuws-OgIA33Xd1KXj_fvGYykDX49om10wzqM130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP516562.RAvUuqrm1fuws-OgIA33Xd1KXj_fvGYykDX49om10wzqM http://purl.org/dc/terms/created 2015-08-25T14:42:45+02:00 http://rdf.disgenet.org/resource/nanopub/NP516562.RAvUuqrm1fuws-OgIA33Xd1KXj_fvGYykDX49om10wzqM http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP516562.RAvUuqrm1fuws-OgIA33Xd1KXj_fvGYykDX49om10wzqM http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP516562.RAvUuqrm1fuws-OgIA33Xd1KXj_fvGYykDX49om10wzqM http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP516562.RAvUuqrm1fuws-OgIA33Xd1KXj_fvGYykDX49om10wzqM http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP516562.RAvUuqrm1fuws-OgIA33Xd1KXj_fvGYykDX49om10wzqM http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP516562.RAvUuqrm1fuws-OgIA33Xd1KXj_fvGYykDX49om10wzqM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP516562.RAvUuqrm1fuws-OgIA33Xd1KXj_fvGYykDX49om10wzqM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP516562.RAvUuqrm1fuws-OgIA33Xd1KXj_fvGYykDX49om10wzqM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP516562.RAvUuqrm1fuws-OgIA33Xd1KXj_fvGYykDX49om10wzqM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP516562.RAvUuqrm1fuws-OgIA33Xd1KXj_fvGYykDX49om10wzqM http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP516562.RAvUuqrm1fuws-OgIA33Xd1KXj_fvGYykDX49om10wzqM 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