Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.R222P
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SCN5A

NM_000335.5:p.R222P

Associated Papers

Gene variant effects across sodium channelopathies predict function and guide precision therapy.

Brunklaus A et al.

Brain : a Journal of Neurology, 2022

35037686 (PubMed )
Supplement: awac006_Supplementary_Data.pdf

Beyond the One Gene-One Disease Paradigm: Complex Genetics and Pleiotropy in Inheritable Cardiac Disorders

Cerrone M et al.

Circulation, 2019

Cardiac Sodium Channel Dysfunction and Dilated Cardiomyopathy: A Contemporary Reappraisal of Pathophysiological Concepts.

Asatryan B

Journal of Clinical Medicine, 2019

Role of the Purkinje system in heritable arrhythmias.

Wilde AAM et al.

Heart Rhythm, 2019

Clinical Spectrum of SCN5A Mutations: Long QT Syndrome, Brugada Syndrome, and Cardiomyopathy.

Wilde AAM et al.

Jacc. Clinical Electrophysiology, 2018

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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."