Varaico: Literature-Extracted Genetic Variants

Gene:CHRNB2
Variant:p.L301V
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CHRNB2

NM_000748.3:p.L301V

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

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

Yang Y et al.

Frontiers in Neurology, 2024

Two novel variants of the STXBP1 and CHRNB2 genes identified in a Chinese boy with refractory seizures and developmental delay.

Wang S et al.

Psychiatric Genetics, 2023

Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.

Wei F et al.

Neuroscience Bulletin, 2017

ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.

Bennett CA et al.

Neurology. Genetics, 2017

28717674 (PubMed )
Supplement: supp_3.4.e163_Table_e-1.xlsx › Weak_segregation_support

Genomic Landscape Survey Identifies SRSF1 as a Key Oncodriver in Small Cell Lung Cancer.

Jiang L et al.

Plos Genetics, 2016

27093186 (PubMed )
Supplement: pgen.1005895.s019.xlsx › Sheet1

Genetic models of focal epilepsies.

Boillot M et al.

Journal of Neuroscience Methods, 2016

Mutational analysis of CHRNB2, CHRNA2 and CHRNA4 genes in Chinese population with autosomal dominant nocturnal frontal lobe epilepsy.

Chen Z et al.

International Journal of Clinical and Experimental Medicine, 2015

Animal models for autosomal dominant frontal lobe epilepsy: on the origin of seizures.

Steinlein OK

Expert Review of Neurotherapeutics, 2010

Human nocturnal frontal lobe epilepsy: pharmocogenomic profiles of pathogenic nicotinic acetylcholine receptor beta-subunit mutations outside the ion channel pore.

Hoda JC et al.

Molecular Pharmacology, 2008

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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."