Varaico: Literature-Extracted Genetic Variants

Gene:CALM2
Variant:p.E141K
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CALM2

NM_001743.6:p.E141K

Associated Papers

Calmodulinopathy in Japanese Children - Their Cardiac Phenotypes Are Severe and Show Early Onset in Fetal Life and Infancy.

Fukuyama M et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2023

Genetic Mosaicism in Calmodulinopathy.

Wren LM et al.

Circulation. Genomic and Precision Medicine, 2019

Calmodulin mutation in long QT syndrome 15 associated with congenital heart defects further complicated by a functional 2:1 atrioventricular block: Management from foetal life to postpartum.

Caruso E et al.

Indian Pacing and Electrophysiology Journal, 0

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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."