Varaico: Literature-Extracted Genetic Variants

Gene:CALM1
Variant:p.D130A
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CALM1

NM_006888.6:p.D130A

Associated Papers

Calmodulin Mutations in Human Disease.

Hussey JW et al.

Channels (austin, Tex.), 2023

Amino Acid-Mediated Intracellular Ca2+ Rise Modulates mTORC1 by Regulating the TSC2-Rheb Axis through Ca2+/Calmodulin.

Amemiya Y et al.

International Journal of Molecular Sciences, 2021

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

Crotti L et al.

European Heart Journal, 2019

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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."