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Q39593426-D91E1FD9-B3F2-4305-8064-D7723B2840E2
Q39593426-D91E1FD9-B3F2-4305-8064-D7723B2840E2
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Statement
http://www.wikidata.org/entity/statement/Q39593426-D91E1FD9-B3F2-4305-8064-D7723B2840E2
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-D91E1FD9-B3F2-4305-8064-D7723B2840E2
BestRank
Statement
http://www.wikidata.org/entity/statement/Q39593426-D91E1FD9-B3F2-4305-8064-D7723B2840E2
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wasDerivedFrom
6b93cc400a3f722c53d671e350fd96a6570ca448
P2860
Developmental impact of a familial GABAA receptor epilepsy mutation