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Q38883198-CC1F8EE9-EAFF-436F-A232-D5CD8C557726
Q38883198-CC1F8EE9-EAFF-436F-A232-D5CD8C557726
BestRank
Statement
http://www.wikidata.org/entity/statement/Q38883198-CC1F8EE9-EAFF-436F-A232-D5CD8C557726
Molecular Pathogenic Basis for GABRG2 Mutations Associated With a Spectrum of Epilepsy Syndromes, From Generalized Absence Epilepsy to Dravet Syndrome.
P2860
Q38883198-CC1F8EE9-EAFF-436F-A232-D5CD8C557726
BestRank
Statement
http://www.wikidata.org/entity/statement/Q38883198-CC1F8EE9-EAFF-436F-A232-D5CD8C557726
rank
NormalRank
type
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Statement
wasDerivedFrom
13fdc19d3bf9f07dc5c6ba8d24ee90b6b300a185
P2860
The intronic GABRG2 mutation, IVS6+2T->G, associated with childhood absence epilepsy altered subunit mRNA intron splicing, activated nonsense-mediated decay, and produced a stable truncated γ2 subunit.