http://rdf.disgenet.org/resource/nanopub/NP801572.RAufiXEGfJJ3eYxTJAZRMcV7EtCCImG2jKh4cC1iJ88Gc130_head http://rdf.disgenet.org/resource/nanopub/NP801572.RAufiXEGfJJ3eYxTJAZRMcV7EtCCImG2jKh4cC1iJ88Gc http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP801572.RAufiXEGfJJ3eYxTJAZRMcV7EtCCImG2jKh4cC1iJ88Gc130_assertion http://rdf.disgenet.org/resource/nanopub/NP801572.RAufiXEGfJJ3eYxTJAZRMcV7EtCCImG2jKh4cC1iJ88Gc http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP801572.RAufiXEGfJJ3eYxTJAZRMcV7EtCCImG2jKh4cC1iJ88Gc130_provenance http://rdf.disgenet.org/resource/nanopub/NP801572.RAufiXEGfJJ3eYxTJAZRMcV7EtCCImG2jKh4cC1iJ88Gc http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP801572.RAufiXEGfJJ3eYxTJAZRMcV7EtCCImG2jKh4cC1iJ88Gc130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP801572.RAufiXEGfJJ3eYxTJAZRMcV7EtCCImG2jKh4cC1iJ88Gc http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP801572.RAufiXEGfJJ3eYxTJAZRMcV7EtCCImG2jKh4cC1iJ88Gc130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP801572.RAufiXEGfJJ3eYxTJAZRMcV7EtCCImG2jKh4cC1iJ88Gc130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP801572.RAufiXEGfJJ3eYxTJAZRMcV7EtCCImG2jKh4cC1iJ88Gc130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP801572.RAufiXEGfJJ3eYxTJAZRMcV7EtCCImG2jKh4cC1iJ88Gc130_assertion http://identifiers.org/ncbigene/2566 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/C0009952 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/DGN38ece4d823ec0eaf9924c42ca07ecf22 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2566 http://rdf.disgenet.org/resource/gda/DGN38ece4d823ec0eaf9924c42ca07ecf22 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0009952 http://rdf.disgenet.org/resource/gda/DGN38ece4d823ec0eaf9924c42ca07ecf22 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP801572.RAufiXEGfJJ3eYxTJAZRMcV7EtCCImG2jKh4cC1iJ88Gc130_provenance http://rdf.disgenet.org/resource/nanopub/NP801572.RAufiXEGfJJ3eYxTJAZRMcV7EtCCImG2jKh4cC1iJ88Gc130_assertion http://purl.org/dc/terms/description [Mutations in inhibitory GABAA receptor subunit genes (GABRA1, GABRB3, GABRG2 and GABRD) have been associated with genetic epilepsy syndromes including childhood absence epilepsy (CAE), juvenile myoclonic epilepsy (JME), pure febrile seizures (FS), generalized epilepsy with febrile seizures plus (GEFS+), and Dravet syndrome (DS)/severe myoclonic epilepsy in infancy (SMEI).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP801572.RAufiXEGfJJ3eYxTJAZRMcV7EtCCImG2jKh4cC1iJ88Gc130_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/NP801572.RAufiXEGfJJ3eYxTJAZRMcV7EtCCImG2jKh4cC1iJ88Gc130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20308251 http://rdf.disgenet.org/resource/nanopub/NP801572.RAufiXEGfJJ3eYxTJAZRMcV7EtCCImG2jKh4cC1iJ88Gc130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP801572.RAufiXEGfJJ3eYxTJAZRMcV7EtCCImG2jKh4cC1iJ88Gc130_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/NP801572.RAufiXEGfJJ3eYxTJAZRMcV7EtCCImG2jKh4cC1iJ88Gc130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP801572.RAufiXEGfJJ3eYxTJAZRMcV7EtCCImG2jKh4cC1iJ88Gc http://purl.org/dc/terms/created 2016-05-13T12:47:48+02:00 http://rdf.disgenet.org/resource/nanopub/NP801572.RAufiXEGfJJ3eYxTJAZRMcV7EtCCImG2jKh4cC1iJ88Gc http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP801572.RAufiXEGfJJ3eYxTJAZRMcV7EtCCImG2jKh4cC1iJ88Gc http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP801572.RAufiXEGfJJ3eYxTJAZRMcV7EtCCImG2jKh4cC1iJ88Gc http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP801572.RAufiXEGfJJ3eYxTJAZRMcV7EtCCImG2jKh4cC1iJ88Gc http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP801572.RAufiXEGfJJ3eYxTJAZRMcV7EtCCImG2jKh4cC1iJ88Gc http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP801572.RAufiXEGfJJ3eYxTJAZRMcV7EtCCImG2jKh4cC1iJ88Gc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP801572.RAufiXEGfJJ3eYxTJAZRMcV7EtCCImG2jKh4cC1iJ88Gc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP801572.RAufiXEGfJJ3eYxTJAZRMcV7EtCCImG2jKh4cC1iJ88Gc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP801572.RAufiXEGfJJ3eYxTJAZRMcV7EtCCImG2jKh4cC1iJ88Gc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP801572.RAufiXEGfJJ3eYxTJAZRMcV7EtCCImG2jKh4cC1iJ88Gc http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP801572.RAufiXEGfJJ3eYxTJAZRMcV7EtCCImG2jKh4cC1iJ88Gc 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