http://rdf.disgenet.org/resource/nanopub/NP426464.RAOvr8y_uWZ8tejTCOG6-Uuz4yWMrueI75YVmlTlbpyyQ#head http://rdf.disgenet.org/resource/nanopub/NP426464.RAOvr8y_uWZ8tejTCOG6-Uuz4yWMrueI75YVmlTlbpyyQ http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP426464.RAOvr8y_uWZ8tejTCOG6-Uuz4yWMrueI75YVmlTlbpyyQ#assertion http://rdf.disgenet.org/resource/nanopub/NP426464.RAOvr8y_uWZ8tejTCOG6-Uuz4yWMrueI75YVmlTlbpyyQ http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP426464.RAOvr8y_uWZ8tejTCOG6-Uuz4yWMrueI75YVmlTlbpyyQ#provenance http://rdf.disgenet.org/resource/nanopub/NP426464.RAOvr8y_uWZ8tejTCOG6-Uuz4yWMrueI75YVmlTlbpyyQ http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP426464.RAOvr8y_uWZ8tejTCOG6-Uuz4yWMrueI75YVmlTlbpyyQ#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP426464.RAOvr8y_uWZ8tejTCOG6-Uuz4yWMrueI75YVmlTlbpyyQ http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP426464.RAOvr8y_uWZ8tejTCOG6-Uuz4yWMrueI75YVmlTlbpyyQ#assertion http://rdf.disgenet.org/resource/gda/DGN73c78a82a7e463ad1d247e7fdc10e174 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2563 http://rdf.disgenet.org/resource/gda/DGN73c78a82a7e463ad1d247e7fdc10e174 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C3502809 http://rdf.disgenet.org/resource/gda/DGN73c78a82a7e463ad1d247e7fdc10e174 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP426464.RAOvr8y_uWZ8tejTCOG6-Uuz4yWMrueI75YVmlTlbpyyQ#provenance http://rdf.disgenet.org/resource/nanopub/NP426464.RAOvr8y_uWZ8tejTCOG6-Uuz4yWMrueI75YVmlTlbpyyQ#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/NP426464.RAOvr8y_uWZ8tejTCOG6-Uuz4yWMrueI75YVmlTlbpyyQ#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/NP426464.RAOvr8y_uWZ8tejTCOG6-Uuz4yWMrueI75YVmlTlbpyyQ#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20308251 http://rdf.disgenet.org/resource/nanopub/NP426464.RAOvr8y_uWZ8tejTCOG6-Uuz4yWMrueI75YVmlTlbpyyQ#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP426464.RAOvr8y_uWZ8tejTCOG6-Uuz4yWMrueI75YVmlTlbpyyQ#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/NP426464.RAOvr8y_uWZ8tejTCOG6-Uuz4yWMrueI75YVmlTlbpyyQ#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP426464.RAOvr8y_uWZ8tejTCOG6-Uuz4yWMrueI75YVmlTlbpyyQ http://purl.org/dc/terms/created 2017-10-17T13:12:54+02:00 http://rdf.disgenet.org/resource/nanopub/NP426464.RAOvr8y_uWZ8tejTCOG6-Uuz4yWMrueI75YVmlTlbpyyQ http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP426464.RAOvr8y_uWZ8tejTCOG6-Uuz4yWMrueI75YVmlTlbpyyQ http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP426464.RAOvr8y_uWZ8tejTCOG6-Uuz4yWMrueI75YVmlTlbpyyQ http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP426464.RAOvr8y_uWZ8tejTCOG6-Uuz4yWMrueI75YVmlTlbpyyQ http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP426464.RAOvr8y_uWZ8tejTCOG6-Uuz4yWMrueI75YVmlTlbpyyQ http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP426464.RAOvr8y_uWZ8tejTCOG6-Uuz4yWMrueI75YVmlTlbpyyQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP426464.RAOvr8y_uWZ8tejTCOG6-Uuz4yWMrueI75YVmlTlbpyyQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP426464.RAOvr8y_uWZ8tejTCOG6-Uuz4yWMrueI75YVmlTlbpyyQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP426464.RAOvr8y_uWZ8tejTCOG6-Uuz4yWMrueI75YVmlTlbpyyQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP426464.RAOvr8y_uWZ8tejTCOG6-Uuz4yWMrueI75YVmlTlbpyyQ http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP426464.RAOvr8y_uWZ8tejTCOG6-Uuz4yWMrueI75YVmlTlbpyyQ 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