http://rdf.disgenet.org/resource/nanopub/NP425787.RAv6HWvy-8XjJjL7a6agvqirEEfgnrzf6ddMs6ooWeNu4#head http://rdf.disgenet.org/resource/nanopub/NP425787.RAv6HWvy-8XjJjL7a6agvqirEEfgnrzf6ddMs6ooWeNu4 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP425787.RAv6HWvy-8XjJjL7a6agvqirEEfgnrzf6ddMs6ooWeNu4#assertion http://rdf.disgenet.org/resource/nanopub/NP425787.RAv6HWvy-8XjJjL7a6agvqirEEfgnrzf6ddMs6ooWeNu4 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP425787.RAv6HWvy-8XjJjL7a6agvqirEEfgnrzf6ddMs6ooWeNu4#provenance http://rdf.disgenet.org/resource/nanopub/NP425787.RAv6HWvy-8XjJjL7a6agvqirEEfgnrzf6ddMs6ooWeNu4 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP425787.RAv6HWvy-8XjJjL7a6agvqirEEfgnrzf6ddMs6ooWeNu4#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP425787.RAv6HWvy-8XjJjL7a6agvqirEEfgnrzf6ddMs6ooWeNu4 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP425787.RAv6HWvy-8XjJjL7a6agvqirEEfgnrzf6ddMs6ooWeNu4#assertion http://rdf.disgenet.org/resource/gda/DGNfb3f3a2e5b6ae4ffbea92a41bd94097f http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2554 http://rdf.disgenet.org/resource/gda/DGNfb3f3a2e5b6ae4ffbea92a41bd94097f http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0751122 http://rdf.disgenet.org/resource/gda/DGNfb3f3a2e5b6ae4ffbea92a41bd94097f http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP425787.RAv6HWvy-8XjJjL7a6agvqirEEfgnrzf6ddMs6ooWeNu4#provenance http://rdf.disgenet.org/resource/nanopub/NP425787.RAv6HWvy-8XjJjL7a6agvqirEEfgnrzf6ddMs6ooWeNu4#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/NP425787.RAv6HWvy-8XjJjL7a6agvqirEEfgnrzf6ddMs6ooWeNu4#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/NP425787.RAv6HWvy-8XjJjL7a6agvqirEEfgnrzf6ddMs6ooWeNu4#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20308251 http://rdf.disgenet.org/resource/nanopub/NP425787.RAv6HWvy-8XjJjL7a6agvqirEEfgnrzf6ddMs6ooWeNu4#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP425787.RAv6HWvy-8XjJjL7a6agvqirEEfgnrzf6ddMs6ooWeNu4#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/NP425787.RAv6HWvy-8XjJjL7a6agvqirEEfgnrzf6ddMs6ooWeNu4#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP425787.RAv6HWvy-8XjJjL7a6agvqirEEfgnrzf6ddMs6ooWeNu4 http://purl.org/dc/terms/created 2017-10-17T13:12:53+02:00 http://rdf.disgenet.org/resource/nanopub/NP425787.RAv6HWvy-8XjJjL7a6agvqirEEfgnrzf6ddMs6ooWeNu4 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP425787.RAv6HWvy-8XjJjL7a6agvqirEEfgnrzf6ddMs6ooWeNu4 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP425787.RAv6HWvy-8XjJjL7a6agvqirEEfgnrzf6ddMs6ooWeNu4 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP425787.RAv6HWvy-8XjJjL7a6agvqirEEfgnrzf6ddMs6ooWeNu4 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP425787.RAv6HWvy-8XjJjL7a6agvqirEEfgnrzf6ddMs6ooWeNu4 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP425787.RAv6HWvy-8XjJjL7a6agvqirEEfgnrzf6ddMs6ooWeNu4 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP425787.RAv6HWvy-8XjJjL7a6agvqirEEfgnrzf6ddMs6ooWeNu4 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP425787.RAv6HWvy-8XjJjL7a6agvqirEEfgnrzf6ddMs6ooWeNu4 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP425787.RAv6HWvy-8XjJjL7a6agvqirEEfgnrzf6ddMs6ooWeNu4 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP425787.RAv6HWvy-8XjJjL7a6agvqirEEfgnrzf6ddMs6ooWeNu4 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP425787.RAv6HWvy-8XjJjL7a6agvqirEEfgnrzf6ddMs6ooWeNu4 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