Varaico: Literature-Extracted Genetic Variants

Gene:CHRNA2
Variant:p.S280F
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CHRNA2

NM_000742.4:p.S280F

Associated Papers

Nicotinic acetylcholine receptors and epilepsy.

Becchetti A et al.

Pharmacological Research, 2023

Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function.

Conti V et al.

Neurology, 2015

Pleiotropic functional effects of the first epilepsy-associated mutation in the human CHRNA2 gene.

Hoda JC et al.

Febs Letters, 2009

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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."