Varaico: Literature-Extracted Genetic Variants

Gene:CACNA2D1
Variant:p.D550Y
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CACNA2D1

NM_000722.4:p.D550Y

Associated Papers

Novel heterozygous mutation of CACNA2D1 gene in a Chinese family with arrhythmia.

Wang Q et al.

Bmc Cardiovascular Disorders, 2024

Genetic Testing in Brugada Syndrome: A 30-Year Experience.

Pannone L et al.

Circulation. Arrhythmia and Electrophysiology, 2024

38426305 (PubMed )
Supplement: circae_circae-2023-012374_supp1.pdf

Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Dellefave-Castillo LM et al.

Jama Cardiology, 2022

35947370 (PubMed )
Supplement: jamacardiol-e222455-s002.xlsx › Supplemental_Table3_rollup

Diagnostic Yield of Genetic Testing in Young Patients With Atrioventricular Block of Unknown Cause.

Resdal Dyssekilde J et al.

Journal of the American Heart Association, 2022

Mutations in voltage-gated L-type calcium channel: implications in cardiac arrhythmia.

Zhang Q et al.

Channels (austin, Tex.), 2018

Brugada syndrome: a fatal disease with complex genetic etiologies - still a long way to go.

Wu Y et al.

Forensic Sciences Research, 2017

Functional characterization of CaVα2δ mutations associated with sudden cardiac death.

Bourdin B et al.

The Journal of Biological Chemistry, 2015

The genetic component of Brugada syndrome.

Nielsen MW et al.

Frontiers in Physiology, 2013

Inherited calcium channelopathies in the pathophysiology of arrhythmias.

Venetucci L et al.

Nature Reviews. Cardiology, 2012

Phenotypical manifestations of mutations in the genes encoding subunits of the cardiac voltage-dependent L-type calcium channel.

Napolitano C et al.

Circulation Research, 2011

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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."