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