http://rdf.disgenet.org/resource/nanopub/NP426524.RAstrxfK83CK4ccBkWoL9jij_sTbsJ1kr1OPfk3w7SUKY#head http://rdf.disgenet.org/resource/nanopub/NP426524.RAstrxfK83CK4ccBkWoL9jij_sTbsJ1kr1OPfk3w7SUKY http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP426524.RAstrxfK83CK4ccBkWoL9jij_sTbsJ1kr1OPfk3w7SUKY#assertion http://rdf.disgenet.org/resource/nanopub/NP426524.RAstrxfK83CK4ccBkWoL9jij_sTbsJ1kr1OPfk3w7SUKY http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP426524.RAstrxfK83CK4ccBkWoL9jij_sTbsJ1kr1OPfk3w7SUKY#provenance http://rdf.disgenet.org/resource/nanopub/NP426524.RAstrxfK83CK4ccBkWoL9jij_sTbsJ1kr1OPfk3w7SUKY http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP426524.RAstrxfK83CK4ccBkWoL9jij_sTbsJ1kr1OPfk3w7SUKY#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP426524.RAstrxfK83CK4ccBkWoL9jij_sTbsJ1kr1OPfk3w7SUKY http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP426524.RAstrxfK83CK4ccBkWoL9jij_sTbsJ1kr1OPfk3w7SUKY#assertion http://rdf.disgenet.org/resource/gda/DGN196053aa0fdd9c8e0e697180fbb9879e http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2563 http://rdf.disgenet.org/resource/gda/DGN196053aa0fdd9c8e0e697180fbb9879e http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0014553 http://rdf.disgenet.org/resource/gda/DGN196053aa0fdd9c8e0e697180fbb9879e http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP426524.RAstrxfK83CK4ccBkWoL9jij_sTbsJ1kr1OPfk3w7SUKY#provenance http://rdf.disgenet.org/resource/nanopub/NP426524.RAstrxfK83CK4ccBkWoL9jij_sTbsJ1kr1OPfk3w7SUKY#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/NP426524.RAstrxfK83CK4ccBkWoL9jij_sTbsJ1kr1OPfk3w7SUKY#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/NP426524.RAstrxfK83CK4ccBkWoL9jij_sTbsJ1kr1OPfk3w7SUKY#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20308251 http://rdf.disgenet.org/resource/nanopub/NP426524.RAstrxfK83CK4ccBkWoL9jij_sTbsJ1kr1OPfk3w7SUKY#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP426524.RAstrxfK83CK4ccBkWoL9jij_sTbsJ1kr1OPfk3w7SUKY#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/NP426524.RAstrxfK83CK4ccBkWoL9jij_sTbsJ1kr1OPfk3w7SUKY#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP426524.RAstrxfK83CK4ccBkWoL9jij_sTbsJ1kr1OPfk3w7SUKY http://purl.org/dc/terms/created 2017-10-17T13:12:54+02:00 http://rdf.disgenet.org/resource/nanopub/NP426524.RAstrxfK83CK4ccBkWoL9jij_sTbsJ1kr1OPfk3w7SUKY http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP426524.RAstrxfK83CK4ccBkWoL9jij_sTbsJ1kr1OPfk3w7SUKY http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP426524.RAstrxfK83CK4ccBkWoL9jij_sTbsJ1kr1OPfk3w7SUKY http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP426524.RAstrxfK83CK4ccBkWoL9jij_sTbsJ1kr1OPfk3w7SUKY http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP426524.RAstrxfK83CK4ccBkWoL9jij_sTbsJ1kr1OPfk3w7SUKY http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP426524.RAstrxfK83CK4ccBkWoL9jij_sTbsJ1kr1OPfk3w7SUKY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP426524.RAstrxfK83CK4ccBkWoL9jij_sTbsJ1kr1OPfk3w7SUKY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP426524.RAstrxfK83CK4ccBkWoL9jij_sTbsJ1kr1OPfk3w7SUKY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP426524.RAstrxfK83CK4ccBkWoL9jij_sTbsJ1kr1OPfk3w7SUKY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP426524.RAstrxfK83CK4ccBkWoL9jij_sTbsJ1kr1OPfk3w7SUKY http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP426524.RAstrxfK83CK4ccBkWoL9jij_sTbsJ1kr1OPfk3w7SUKY 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