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Q24601791-4C01AAD8-9E92-4839-ADF8-DDAB657C708E
Q24601791-4C01AAD8-9E92-4839-ADF8-DDAB657C708E
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24601791-4C01AAD8-9E92-4839-ADF8-DDAB657C708E
Channelopathies
P2860
Q24601791-4C01AAD8-9E92-4839-ADF8-DDAB657C708E
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24601791-4C01AAD8-9E92-4839-ADF8-DDAB657C708E
rank
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type
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wasDerivedFrom
7dd86536f1ece47c9ce8714a3403162271d9990b
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.