http://rdf.disgenet.org/resource/nanopub/NP416747.RARcsGjS1j5w5F_hhgmzwGgpqQuths6iKZGiTQ7DKqxnM130_head http://rdf.disgenet.org/resource/nanopub/NP416747.RARcsGjS1j5w5F_hhgmzwGgpqQuths6iKZGiTQ7DKqxnM http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP416747.RARcsGjS1j5w5F_hhgmzwGgpqQuths6iKZGiTQ7DKqxnM130_assertion http://rdf.disgenet.org/resource/nanopub/NP416747.RARcsGjS1j5w5F_hhgmzwGgpqQuths6iKZGiTQ7DKqxnM http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP416747.RARcsGjS1j5w5F_hhgmzwGgpqQuths6iKZGiTQ7DKqxnM130_provenance http://rdf.disgenet.org/resource/nanopub/NP416747.RARcsGjS1j5w5F_hhgmzwGgpqQuths6iKZGiTQ7DKqxnM http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP416747.RARcsGjS1j5w5F_hhgmzwGgpqQuths6iKZGiTQ7DKqxnM130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP416747.RARcsGjS1j5w5F_hhgmzwGgpqQuths6iKZGiTQ7DKqxnM http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP416747.RARcsGjS1j5w5F_hhgmzwGgpqQuths6iKZGiTQ7DKqxnM130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP416747.RARcsGjS1j5w5F_hhgmzwGgpqQuths6iKZGiTQ7DKqxnM130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP416747.RARcsGjS1j5w5F_hhgmzwGgpqQuths6iKZGiTQ7DKqxnM130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP416747.RARcsGjS1j5w5F_hhgmzwGgpqQuths6iKZGiTQ7DKqxnM130_assertion http://identifiers.org/ncbigene/2554 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/C0751122 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/DGN1b2f3cf6b408fe2788c92bdd5ec17478 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2554 http://rdf.disgenet.org/resource/gda/DGN1b2f3cf6b408fe2788c92bdd5ec17478 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0751122 http://rdf.disgenet.org/resource/gda/DGN1b2f3cf6b408fe2788c92bdd5ec17478 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP416747.RARcsGjS1j5w5F_hhgmzwGgpqQuths6iKZGiTQ7DKqxnM130_provenance http://rdf.disgenet.org/resource/nanopub/NP416747.RARcsGjS1j5w5F_hhgmzwGgpqQuths6iKZGiTQ7DKqxnM130_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/NP416747.RARcsGjS1j5w5F_hhgmzwGgpqQuths6iKZGiTQ7DKqxnM130_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/NP416747.RARcsGjS1j5w5F_hhgmzwGgpqQuths6iKZGiTQ7DKqxnM130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20308251 http://rdf.disgenet.org/resource/nanopub/NP416747.RARcsGjS1j5w5F_hhgmzwGgpqQuths6iKZGiTQ7DKqxnM130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP416747.RARcsGjS1j5w5F_hhgmzwGgpqQuths6iKZGiTQ7DKqxnM130_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/NP416747.RARcsGjS1j5w5F_hhgmzwGgpqQuths6iKZGiTQ7DKqxnM130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP416747.RARcsGjS1j5w5F_hhgmzwGgpqQuths6iKZGiTQ7DKqxnM http://purl.org/dc/terms/created 2015-08-25T14:41:42+02:00 http://rdf.disgenet.org/resource/nanopub/NP416747.RARcsGjS1j5w5F_hhgmzwGgpqQuths6iKZGiTQ7DKqxnM http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP416747.RARcsGjS1j5w5F_hhgmzwGgpqQuths6iKZGiTQ7DKqxnM http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP416747.RARcsGjS1j5w5F_hhgmzwGgpqQuths6iKZGiTQ7DKqxnM http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP416747.RARcsGjS1j5w5F_hhgmzwGgpqQuths6iKZGiTQ7DKqxnM http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP416747.RARcsGjS1j5w5F_hhgmzwGgpqQuths6iKZGiTQ7DKqxnM http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP416747.RARcsGjS1j5w5F_hhgmzwGgpqQuths6iKZGiTQ7DKqxnM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP416747.RARcsGjS1j5w5F_hhgmzwGgpqQuths6iKZGiTQ7DKqxnM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP416747.RARcsGjS1j5w5F_hhgmzwGgpqQuths6iKZGiTQ7DKqxnM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP416747.RARcsGjS1j5w5F_hhgmzwGgpqQuths6iKZGiTQ7DKqxnM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP416747.RARcsGjS1j5w5F_hhgmzwGgpqQuths6iKZGiTQ7DKqxnM http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP416747.RARcsGjS1j5w5F_hhgmzwGgpqQuths6iKZGiTQ7DKqxnM 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