Homo sapiens clone GABRA4_iso-B_fetal-F04 gamma-aminobutyric acid A re - Nucleotide

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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.
Differential assembly diversifies GABA(A) receptor structures and signalling. [Nature. 2022]
Differential assembly diversifies GABA(A) receptor structures and signalling.
Sente A, Desai R, Naydenova K, Malinauskas T, Jounaidi Y, Miehling J, Zhou X, Masiulis S, Hardwick SW, Chirgadze DY, et al. Nature. 2022 Apr; 604(7904):190-194. Epub 2022 Mar 30.
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.

RefSeq alternative splicing
See 3 reference mRNA sequence splice variants for the GABRA4 gene.

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Nucleotide