http://rdf.disgenet.org/resource/nanopub/NP426526.RATQDdveLZD7Ft_heA7lDBa_7wKpI9Ojk-WLJyFuWd1Eg#head http://rdf.disgenet.org/resource/nanopub/NP426526.RATQDdveLZD7Ft_heA7lDBa_7wKpI9Ojk-WLJyFuWd1Eg http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP426526.RATQDdveLZD7Ft_heA7lDBa_7wKpI9Ojk-WLJyFuWd1Eg#assertion http://rdf.disgenet.org/resource/nanopub/NP426526.RATQDdveLZD7Ft_heA7lDBa_7wKpI9Ojk-WLJyFuWd1Eg http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP426526.RATQDdveLZD7Ft_heA7lDBa_7wKpI9Ojk-WLJyFuWd1Eg#provenance http://rdf.disgenet.org/resource/nanopub/NP426526.RATQDdveLZD7Ft_heA7lDBa_7wKpI9Ojk-WLJyFuWd1Eg http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP426526.RATQDdveLZD7Ft_heA7lDBa_7wKpI9Ojk-WLJyFuWd1Eg#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP426526.RATQDdveLZD7Ft_heA7lDBa_7wKpI9Ojk-WLJyFuWd1Eg http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP426526.RATQDdveLZD7Ft_heA7lDBa_7wKpI9Ojk-WLJyFuWd1Eg#assertion http://rdf.disgenet.org/resource/gda/DGNe5d41eb896b8d1cf6be94e390d9b2efe http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2563 http://rdf.disgenet.org/resource/gda/DGNe5d41eb896b8d1cf6be94e390d9b2efe http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0751122 http://rdf.disgenet.org/resource/gda/DGNe5d41eb896b8d1cf6be94e390d9b2efe http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP426526.RATQDdveLZD7Ft_heA7lDBa_7wKpI9Ojk-WLJyFuWd1Eg#provenance http://rdf.disgenet.org/resource/nanopub/NP426526.RATQDdveLZD7Ft_heA7lDBa_7wKpI9Ojk-WLJyFuWd1Eg#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/NP426526.RATQDdveLZD7Ft_heA7lDBa_7wKpI9Ojk-WLJyFuWd1Eg#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/NP426526.RATQDdveLZD7Ft_heA7lDBa_7wKpI9Ojk-WLJyFuWd1Eg#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20308251 http://rdf.disgenet.org/resource/nanopub/NP426526.RATQDdveLZD7Ft_heA7lDBa_7wKpI9Ojk-WLJyFuWd1Eg#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP426526.RATQDdveLZD7Ft_heA7lDBa_7wKpI9Ojk-WLJyFuWd1Eg#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/NP426526.RATQDdveLZD7Ft_heA7lDBa_7wKpI9Ojk-WLJyFuWd1Eg#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP426526.RATQDdveLZD7Ft_heA7lDBa_7wKpI9Ojk-WLJyFuWd1Eg http://purl.org/dc/terms/created 2017-10-17T13:12:54+02:00 http://rdf.disgenet.org/resource/nanopub/NP426526.RATQDdveLZD7Ft_heA7lDBa_7wKpI9Ojk-WLJyFuWd1Eg http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP426526.RATQDdveLZD7Ft_heA7lDBa_7wKpI9Ojk-WLJyFuWd1Eg http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP426526.RATQDdveLZD7Ft_heA7lDBa_7wKpI9Ojk-WLJyFuWd1Eg http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP426526.RATQDdveLZD7Ft_heA7lDBa_7wKpI9Ojk-WLJyFuWd1Eg http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP426526.RATQDdveLZD7Ft_heA7lDBa_7wKpI9Ojk-WLJyFuWd1Eg http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP426526.RATQDdveLZD7Ft_heA7lDBa_7wKpI9Ojk-WLJyFuWd1Eg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP426526.RATQDdveLZD7Ft_heA7lDBa_7wKpI9Ojk-WLJyFuWd1Eg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP426526.RATQDdveLZD7Ft_heA7lDBa_7wKpI9Ojk-WLJyFuWd1Eg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP426526.RATQDdveLZD7Ft_heA7lDBa_7wKpI9Ojk-WLJyFuWd1Eg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP426526.RATQDdveLZD7Ft_heA7lDBa_7wKpI9Ojk-WLJyFuWd1Eg http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP426526.RATQDdveLZD7Ft_heA7lDBa_7wKpI9Ojk-WLJyFuWd1Eg 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