Varaico: Literature-Extracted Genetic Variants

Gene:JPH2
Variant:p.R420W
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JPH2

NM_020433.5:p.R420W

Associated Papers

Structural basis for ryanodine receptor type 2 leak in heart failure and arrhythmogenic disorders.

Miotto MC et al.

Nature Communications, 2024

Location of ryanodine receptor type 2 mutation predicts age of onset of sudden death in catecholaminergic polymorphic ventricular tachycardia - A systematic review and meta-analysis of case-based literature.

Beqaj H et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

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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."