Varaico: Literature-Extracted Genetic Variants

Gene:GJA5
Variant:p.L223M
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GJA5

NM_181703.4:p.L223M

Associated Papers

Atrial Fibrillation: Focus on Myocardial Connexins and Gap Junctions.

Guo YH et al.

Biology, 2022

Cytoskeletal Protein Variants Driving Atrial Fibrillation: Potential Mechanisms of Action.

van Wijk SW et al.

Cells, 2022

Differential Domain Distribution of gnomAD- and Disease-Linked Connexin Missense Variants.

Bai D et al.

International Journal of Molecular Sciences, 2021

34360596 (PubMed )
Supplement: ijms-22-07832-s001.zip › ijms-1281081_supplemental-tables-June10-2021.pdf

Functional Characterization of Novel Atrial Fibrillation-Linked GJA5 (Cx40) Mutants.

Noureldin M et al.

International Journal of Molecular Sciences, 2018

Prevalence and spectrum of GJA5 mutations associated with lone atrial fibrillation.

Shi HF et al.

Molecular Medicine Reports, 2013

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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."