Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.V26A
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EMD

NM_000117.3:p.V26A

Associated Papers

Arrhythmic genotypes in dilated cardiomyopathy and risk of advanced heart failure.

Mora-Ayestarán N et al.

European Heart Journal, 2025

40878535 (PubMed )
Supplement: ehaf605_supplementary_data.zip › S13._Variant_classification.xlsx › Variant_classification

EMD missense variant causes X-linked isolated dilated cardiomyopathy with myocardial emerin deficiency.

Bulmer L et al.

European Journal of Human Genetics : Ejhg, 2025

Natural History of Dilated Cardiomyopathy Due to c.77T>C (p.Val26Ala) in Emerin Protein.

Báez-Ferrer N et al.

Journal of Clinical Medicine, 2024

Camptothecin resistance is determined by the regulation of topoisomerase I degradation mediated by ubiquitin proteasome pathway.

Ando K et al.

Oncotarget, 2017

Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation.

Cuenca S et al.

The Journal of Heart and Lung Transplantation : the Official Publication of the International Society for Heart Transplantation, 2016

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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."