Varaico: Literature-Extracted Genetic Variants

Gene:CLCNKA
Variant:p.D274N
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CLCNKA

NM_004070.4:p.D274N

Associated Papers

Rare variants in cardiomyopathy genes predispose to cardiac injury in severe COVID-19 patients of African or Hispanic ancestry.

Qu HQ et al.

Journal of Molecular Medicine (berlin, Germany), 2025

39730912 (PubMed )
Supplement: 109_2024_2510_MOESM2_ESM.xlsx › Sheet1

Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide.

Gonzaga-Jauregui C et al.

European Journal of Human Genetics : Ejhg, 2020

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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."