Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ2
Variant:p.E138K
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KCNJ2

NM_000891.3:p.E138K

Associated Papers

Molecular stratification of arrhythmogenic mechanisms in the Andersen Tawil syndrome.

Moreno-Manuel AI et al.

Cardiovascular Research, 2023

Andersen-Tawil Syndrome With Novel Mutation in KCNJ2: Case Report.

Yim J et al.

Frontiers in Pediatrics, 2021

Phenotypic variability in a series of four pediatric patients with Andersen-Tawil syndrome: A Saudi experience.

Alrashed NA et al.

International Journal of Pediatrics & Adolescent Medicine, 2019

Andersen-Tawil syndrome: report of 3 novel mutations and high risk of symptomatic cardiac involvement.

Kostera-Pruszczyk A et al.

Muscle & Nerve, 2015

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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."