http://rdf.disgenet.org/resource/nanopub/NP417037.RALoEsvo2gOFLjJJOsM5AJfpdR-lSHz0XuInrgUBfHvuU130_head http://rdf.disgenet.org/resource/nanopub/NP417037.RALoEsvo2gOFLjJJOsM5AJfpdR-lSHz0XuInrgUBfHvuU http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP417037.RALoEsvo2gOFLjJJOsM5AJfpdR-lSHz0XuInrgUBfHvuU130_assertion http://rdf.disgenet.org/resource/nanopub/NP417037.RALoEsvo2gOFLjJJOsM5AJfpdR-lSHz0XuInrgUBfHvuU http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP417037.RALoEsvo2gOFLjJJOsM5AJfpdR-lSHz0XuInrgUBfHvuU130_provenance http://rdf.disgenet.org/resource/nanopub/NP417037.RALoEsvo2gOFLjJJOsM5AJfpdR-lSHz0XuInrgUBfHvuU http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP417037.RALoEsvo2gOFLjJJOsM5AJfpdR-lSHz0XuInrgUBfHvuU130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP417037.RALoEsvo2gOFLjJJOsM5AJfpdR-lSHz0XuInrgUBfHvuU http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP417037.RALoEsvo2gOFLjJJOsM5AJfpdR-lSHz0XuInrgUBfHvuU130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP417037.RALoEsvo2gOFLjJJOsM5AJfpdR-lSHz0XuInrgUBfHvuU130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP417037.RALoEsvo2gOFLjJJOsM5AJfpdR-lSHz0XuInrgUBfHvuU130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP417037.RALoEsvo2gOFLjJJOsM5AJfpdR-lSHz0XuInrgUBfHvuU130_assertion http://identifiers.org/ncbigene/2563 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/DGN46c9ad9dd388ff20338142eebe9582f0 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2563 http://rdf.disgenet.org/resource/gda/DGN46c9ad9dd388ff20338142eebe9582f0 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0009952 http://rdf.disgenet.org/resource/gda/DGN46c9ad9dd388ff20338142eebe9582f0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP417037.RALoEsvo2gOFLjJJOsM5AJfpdR-lSHz0XuInrgUBfHvuU130_provenance http://rdf.disgenet.org/resource/nanopub/NP417037.RALoEsvo2gOFLjJJOsM5AJfpdR-lSHz0XuInrgUBfHvuU130_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/NP417037.RALoEsvo2gOFLjJJOsM5AJfpdR-lSHz0XuInrgUBfHvuU130_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/NP417037.RALoEsvo2gOFLjJJOsM5AJfpdR-lSHz0XuInrgUBfHvuU130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20308251 http://rdf.disgenet.org/resource/nanopub/NP417037.RALoEsvo2gOFLjJJOsM5AJfpdR-lSHz0XuInrgUBfHvuU130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP417037.RALoEsvo2gOFLjJJOsM5AJfpdR-lSHz0XuInrgUBfHvuU130_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/NP417037.RALoEsvo2gOFLjJJOsM5AJfpdR-lSHz0XuInrgUBfHvuU130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP417037.RALoEsvo2gOFLjJJOsM5AJfpdR-lSHz0XuInrgUBfHvuU http://purl.org/dc/terms/created 2015-08-25T14:41:42+02:00 http://rdf.disgenet.org/resource/nanopub/NP417037.RALoEsvo2gOFLjJJOsM5AJfpdR-lSHz0XuInrgUBfHvuU http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP417037.RALoEsvo2gOFLjJJOsM5AJfpdR-lSHz0XuInrgUBfHvuU http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP417037.RALoEsvo2gOFLjJJOsM5AJfpdR-lSHz0XuInrgUBfHvuU http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP417037.RALoEsvo2gOFLjJJOsM5AJfpdR-lSHz0XuInrgUBfHvuU http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP417037.RALoEsvo2gOFLjJJOsM5AJfpdR-lSHz0XuInrgUBfHvuU http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP417037.RALoEsvo2gOFLjJJOsM5AJfpdR-lSHz0XuInrgUBfHvuU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP417037.RALoEsvo2gOFLjJJOsM5AJfpdR-lSHz0XuInrgUBfHvuU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP417037.RALoEsvo2gOFLjJJOsM5AJfpdR-lSHz0XuInrgUBfHvuU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP417037.RALoEsvo2gOFLjJJOsM5AJfpdR-lSHz0XuInrgUBfHvuU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP417037.RALoEsvo2gOFLjJJOsM5AJfpdR-lSHz0XuInrgUBfHvuU http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP417037.RALoEsvo2gOFLjJJOsM5AJfpdR-lSHz0XuInrgUBfHvuU 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