http://rdf.disgenet.org/resource/nanopub/NP812451.RAAcyGj7x_nnh3C2rnZXAJeOfanuOFK2rY4e60dNy3vmo130_head http://rdf.disgenet.org/resource/nanopub/NP812451.RAAcyGj7x_nnh3C2rnZXAJeOfanuOFK2rY4e60dNy3vmo http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP812451.RAAcyGj7x_nnh3C2rnZXAJeOfanuOFK2rY4e60dNy3vmo130_assertion http://rdf.disgenet.org/resource/nanopub/NP812451.RAAcyGj7x_nnh3C2rnZXAJeOfanuOFK2rY4e60dNy3vmo http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP812451.RAAcyGj7x_nnh3C2rnZXAJeOfanuOFK2rY4e60dNy3vmo130_provenance http://rdf.disgenet.org/resource/nanopub/NP812451.RAAcyGj7x_nnh3C2rnZXAJeOfanuOFK2rY4e60dNy3vmo http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP812451.RAAcyGj7x_nnh3C2rnZXAJeOfanuOFK2rY4e60dNy3vmo130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP812451.RAAcyGj7x_nnh3C2rnZXAJeOfanuOFK2rY4e60dNy3vmo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP812451.RAAcyGj7x_nnh3C2rnZXAJeOfanuOFK2rY4e60dNy3vmo130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP812451.RAAcyGj7x_nnh3C2rnZXAJeOfanuOFK2rY4e60dNy3vmo130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP812451.RAAcyGj7x_nnh3C2rnZXAJeOfanuOFK2rY4e60dNy3vmo130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP812451.RAAcyGj7x_nnh3C2rnZXAJeOfanuOFK2rY4e60dNy3vmo130_assertion http://identifiers.org/ncbigene/22941 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/DGNe453beb4972b3d3e210f8f2e313696ea http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/22941 http://rdf.disgenet.org/resource/gda/DGNe453beb4972b3d3e210f8f2e313696ea http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0018817 http://rdf.disgenet.org/resource/gda/DGNe453beb4972b3d3e210f8f2e313696ea http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP812451.RAAcyGj7x_nnh3C2rnZXAJeOfanuOFK2rY4e60dNy3vmo130_provenance http://rdf.disgenet.org/resource/nanopub/NP812451.RAAcyGj7x_nnh3C2rnZXAJeOfanuOFK2rY4e60dNy3vmo130_assertion http://purl.org/dc/terms/description [DNA sequencing of SHANK2 in 396 individuals with ASD, 184 individuals with mental retardation and 659 unaffected individuals (controls) revealed additional variants that were specific to ASD and mental retardation cases, including a de novo nonsense mutation and seven rare inherited changes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP812451.RAAcyGj7x_nnh3C2rnZXAJeOfanuOFK2rY4e60dNy3vmo130_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/NP812451.RAAcyGj7x_nnh3C2rnZXAJeOfanuOFK2rY4e60dNy3vmo130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20473310 http://rdf.disgenet.org/resource/nanopub/NP812451.RAAcyGj7x_nnh3C2rnZXAJeOfanuOFK2rY4e60dNy3vmo130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP812451.RAAcyGj7x_nnh3C2rnZXAJeOfanuOFK2rY4e60dNy3vmo130_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/NP812451.RAAcyGj7x_nnh3C2rnZXAJeOfanuOFK2rY4e60dNy3vmo130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP812451.RAAcyGj7x_nnh3C2rnZXAJeOfanuOFK2rY4e60dNy3vmo http://purl.org/dc/terms/created 2016-05-13T12:47:53+02:00 http://rdf.disgenet.org/resource/nanopub/NP812451.RAAcyGj7x_nnh3C2rnZXAJeOfanuOFK2rY4e60dNy3vmo http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP812451.RAAcyGj7x_nnh3C2rnZXAJeOfanuOFK2rY4e60dNy3vmo http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP812451.RAAcyGj7x_nnh3C2rnZXAJeOfanuOFK2rY4e60dNy3vmo http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP812451.RAAcyGj7x_nnh3C2rnZXAJeOfanuOFK2rY4e60dNy3vmo http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP812451.RAAcyGj7x_nnh3C2rnZXAJeOfanuOFK2rY4e60dNy3vmo http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP812451.RAAcyGj7x_nnh3C2rnZXAJeOfanuOFK2rY4e60dNy3vmo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP812451.RAAcyGj7x_nnh3C2rnZXAJeOfanuOFK2rY4e60dNy3vmo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP812451.RAAcyGj7x_nnh3C2rnZXAJeOfanuOFK2rY4e60dNy3vmo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP812451.RAAcyGj7x_nnh3C2rnZXAJeOfanuOFK2rY4e60dNy3vmo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP812451.RAAcyGj7x_nnh3C2rnZXAJeOfanuOFK2rY4e60dNy3vmo http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP812451.RAAcyGj7x_nnh3C2rnZXAJeOfanuOFK2rY4e60dNy3vmo 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