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Q39593426-BED49D8F-EE3B-445A-9836-516FE2C5CCEF
Q39593426-BED49D8F-EE3B-445A-9836-516FE2C5CCEF
BestRank
Statement
http://www.wikidata.org/entity/statement/Q39593426-BED49D8F-EE3B-445A-9836-516FE2C5CCEF
The GABRG2 nonsense mutation, Q40X, associated with Dravet syndrome activated NMD and generated a truncated subunit that was partially rescued by aminoglycoside-induced stop codon read-through.
P2860
Q39593426-BED49D8F-EE3B-445A-9836-516FE2C5CCEF
BestRank
Statement
http://www.wikidata.org/entity/statement/Q39593426-BED49D8F-EE3B-445A-9836-516FE2C5CCEF
rank
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type
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wasDerivedFrom
ffc6bebfa681d55bf3f2d1bac641db6c141dd279
P2860
Knock-in mice reveal nonsense-mediated mRNA decay in the brain.