Varaico: Literature-Extracted Genetic Variants

Gene:CLCA2
Variant:p.W575C
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CLCA2

NM_006536.7:p.W575C

Associated Papers

Phenotypic expression of rare progressive cardiac conduction disease variants in the general population.

Shah RA et al.

Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2025

40359255 (PubMed )
Supplement: euaf103_supplementary_data.xls › Supplemental_Table_1

A newly identified missense mutation in CLCA2 is associated with autosomal dominant cardiac conduction block.

Mao Z et al.

Gene, 2019

[Mutation screening for the causative gene in a four-generation Chinese pedigree with progressive cardiac conduction defect].

Tan XJ et al.

Zhonghua Xin Xue Guan Bing Za Zhi, 2016

[Molecular genetic study of a family featuring cardiac conduction block].

Tan X et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2015

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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."