Varaico: Literature-Extracted Genetic Variants

Gene:CHRNA4
Variant:p.S284W
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CHRNA4

NM_000744.7:p.S284W

Associated Papers

Clinical, molecular, physiologic, and therapeutic feature of patients with CHRNA4 and CHRNB2 deficiency: A systematic review.

Jalaiei A et al.

Journal of Neurochemistry, 2025

Nicotinic acetylcholine receptors and epilepsy.

Becchetti A et al.

Pharmacological Research, 2023

Genetic Variant in Nicotinic Receptor α4-Subunit Causes Sleep-Related Hyperkinetic Epilepsy via Increased Channel Opening.

Mazzaferro S et al.

International Journal of Molecular Sciences, 2022

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."