gamma-aminobutyric acid receptor subunit alpha-4 isoform X1 [Pan trogl - Protein

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The de novo GABRA4 p.Thr300Ile variant found in a patient with early-onset intractable epilepsy and neurodevelopmental abnormalities displays gain-of-function traits. [Epilepsia. 2022]
The de novo GABRA4 p.Thr300Ile variant found in a patient with early-onset intractable epilepsy and neurodevelopmental abnormalities displays gain-of-function traits.
Ahring PK, Liao VWY, Lin S, Absalom NL, Chebib M, Møller RS. Epilepsia. 2022 Sep; 63(9):2439-2441. Epub 2022 Jul 20.
A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotype. [Epilepsia. 2022]
A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotype.
Vogel FD, Krenn M, Westphal DS, Graf E, Wagner M, Leiz S, Koniuszewski F, Augé-Stock M, Kramer G, Scholze P, et al. Epilepsia. 2022 Apr; 63(4):e35-e41. Epub 2022 Feb 12.
Identification of rare noncoding sequence variants in gamma-aminobutyric acid A receptor, alpha 4 subunit in autism spectrum disorder. [Neurogenetics. 2018]
Identification of rare noncoding sequence variants in gamma-aminobutyric acid A receptor, alpha 4 subunit in autism spectrum disorder.
Griswold AJ, Van Booven D, Cuccaro ML, Haines JL, Gilbert JR, Pericak-Vance MA. Neurogenetics. 2018 Jan; 19(1):17-26. Epub 2017 Nov 18.

RefSeq mRNA
See reference mRNA sequence for the GABRA4 gene (XM_526774.8).
RefSeq protein isoforms
See the other reference sequence protein isoform for the GABRA4 gene (XP_054539143.1).

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