Varaico: Literature-Extracted Genetic Variants

Gene:CHRNA4
Variant:p.T286I
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CHRNA4

NM_000744.7:p.T286I

Associated Papers

Pathogenesis and pathophysiology of autosomal dominant sleep-related hypermotor epilepsy with S284L-mutant α4 subunit of nicotinic ACh receptor.

Fukuyama K et al.

British Journal of Pharmacology, 2020

Rats harboring S284L Chrna4 mutation show attenuation of synaptic and extrasynaptic GABAergic transmission and exhibit the nocturnal frontal lobe epilepsy phenotype.

Zhu G et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 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."