Varaico: Literature-Extracted Genetic Variants

Gene:CALM1
Variant:p.E141V
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CALM1

NM_006888.6:p.E141V

Associated Papers

Induced Pluripotent Stem Cells in Congenital Long QT Syndrome: Research Progress and Clinical Applications.

Li Q et al.

Reviews in Cardiovascular Medicine, 2025

Case report of a child with long QT syndrome type 14 caused by CALM1 gene mutation and literature review.

Sun Q et al.

Molecular Genetics & Genomic Medicine, 2024

Calmodulin Mutations in Human Disease.

Hussey JW et al.

Channels (austin, Tex.), 2023

Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry.

Crotti L et al.

European Heart Journal, 2023

Gap Junction Channelopathies and Calmodulinopathies. Do Disease-Causing Calmodulin Mutants Affect Direct Cell-Cell Communication?

Peracchia C

International Journal of Molecular Sciences, 2021

Genetic Mosaicism in Calmodulinopathy.

Wren LM et al.

Circulation. Genomic and Precision Medicine, 2019

Calmodulinopathy in inherited arrhythmia syndromes.

Tsai WC et al.

Tzu Chi Medical 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."