Varaico: Literature-Extracted Genetic Variants

Gene:CHRNA2
Variant:p.Y252H
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CHRNA2

NM_000742.4:p.Y252H

Associated Papers

Pathogenic genes implicated in sleep-related hypermotor epilepsy: a research progress update.

Yang Y et al.

Frontiers in Neurology, 2024

Nicotinic Receptors in Sleep-Related Hypermotor Epilepsy: Pathophysiology and Pharmacology.

Becchetti A et al.

Brain Sciences, 2020

CHRNA2 and Nocturnal Frontal Lobe Epilepsy: Identification and Characterization of a Novel Loss of Function Mutation.

Villa C et al.

Frontiers in Molecular Neuroscience, 2019

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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."