Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ2
Variant:p.S95_F98del0
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KCNJ2

NM_000891.3:p.S95_F98del0

Associated Papers

Marked reduction in paralytic attacks in a patient with Andersen-Tawil syndrome switched from acetazolamide to dichlorphenamide.

Gupta A et al.

Neuromuscular Disorders : Nmd, 2021

Imipramine for incessant ventricular arrhythmias in 2 unrelated patients with Andersen-Tawil syndrome.

Bigelow AM et al.

Heart Rhythm, 2015

The genetic basis of long QT and short QT syndromes: a mutation update.

Hedley PL et al.

Human Mutation, 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."