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Q35977083-0F3FCB81-EC67-4EF2-912B-AE35905E7B9D
Q35977083-0F3FCB81-EC67-4EF2-912B-AE35905E7B9D
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35977083-0F3FCB81-EC67-4EF2-912B-AE35905E7B9D
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.
P2860
Q35977083-0F3FCB81-EC67-4EF2-912B-AE35905E7B9D
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35977083-0F3FCB81-EC67-4EF2-912B-AE35905E7B9D
rank
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type
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Statement
wasDerivedFrom
bd39f0bd506ed1140c469aebc6cab71eb03e7c72
P2860
A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions