Varaico: Literature-Extracted Genetic Variants

Gene:CHRNB2
Variant:p.A400A
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CHRNB2

NM_000748.3:p.A400A

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

A case of autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) coexisting with pervasive developmental disorder harboring SCN1A mutation in addition to CHRNB2 mutation.

Sone D et al.

Epilepsy & Behavior : E&b, 2012

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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."