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