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Article

Structural Evaluation of<i>RYR2</i>-CPVT Missense Variants and Continuous Bayesian Estimates of their Penetrance

2025-03-21

Abstract excerpt

<h4>Background</h4> Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is strongly associated with rare missense variants in RYR2 , the gene encoding the intracellular calcium release channel RyR2. Precision medicine is complicated by incomplete penetrance, particularly in the case of RYR2 -CPVT variants <h4>Objective</h4> To improve structural understanding and clinical actionability of RYR2- CPVT incom...

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Literature Corpus work
6b7330a3-e80b-5426-a6b3-6a5a0e5d2f99
DOI
10.1101/2025.03.20.25324327
Open publication

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