Varaico: Literature-Extracted Genetic Variants

Gene:CACNA2D1
Variant:p.S956Y
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CACNA2D1

NM_000722.4:p.S956Y

Associated Papers

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

Wang Q et al.

Bmc Cardiovascular Disorders, 2024

Differential intolerance to loss of function and missense mutations in genes that encode human matricellular proteins.

Kaur S et al.

Journal of Cell Communication and Signaling, 2021

Inherited calcium channelopathies in the pathophysiology of arrhythmias.

Venetucci L et al.

Nature Reviews. Cardiology, 2012

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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."