Varaico: Literature-Extracted Genetic Variants

Gene:CALM1
Variant:p.D132H
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CALM1

NM_006888.6:p.D132H

Associated Papers

Calmodulin Mutations in Human Disease.

Hussey JW et al.

Channels (austin, Tex.), 2023

Arrhythmia-associated calmodulin variants interact with KCNQ1 to confer aberrant membrane trafficking and function.

Kang PW et al.

Pnas Nexus, 2023

Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry.

Crotti L et al.

European Heart Journal, 2019

Protein phenotype diagnosis of autosomal dominant calmodulin mutations causing irregular heart rhythms.

Shaik NA et al.

Journal of Cellular Biochemistry, 2018

Human Calmodulin Mutations.

Jensen HH et al.

Frontiers in Molecular Neuroscience, 2018

Novel calmodulin mutations associated with congenital long QT syndrome affect calcium current in human cardiomyocytes.

Pipilas DC et al.

Heart Rhythm, 2016

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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."