wikimedia
/
wikidata
/
Login
Register
TriplyDB
Wikidata
Browser
Table
SPARQL
Graphs
1
1
Services
1
1
Assets
0
0
Insights
Schema
BETA
Class frequency
Class hierarchy
Q39966055-DA92F10B-38AB-4675-87F9-508778CD246F
Q39966055-DA92F10B-38AB-4675-87F9-508778CD246F
BestRank
Statement
http://www.wikidata.org/entity/statement/Q39966055-DA92F10B-38AB-4675-87F9-508778CD246F
De novo GABRA1 mutations in Ohtahara and West syndromes.
P2860
Q39966055-DA92F10B-38AB-4675-87F9-508778CD246F
BestRank
Statement
http://www.wikidata.org/entity/statement/Q39966055-DA92F10B-38AB-4675-87F9-508778CD246F
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
478f576d57d530c5c16701f94976f065e0f1181a
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.