Varaico: Literature-Extracted Genetic Variants

Gene:CALM1
Variant:p.Q50R
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CALM1

NM_006888.6:p.Q50R

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

Arrhythmia-associated Calmodulin Variants Interact with KCNQ1 to Confer Aberrant Membrane Trafficking and Function.

Kang PW et al.

Biorxiv : the Preprint Server for Biology, 2023

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."