Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.Q162*
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EMD

NM_000117.3:p.Q162*

Associated Papers

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

Bulmer L et al.

European Journal of Human Genetics : Ejhg, 2025

40065010 (PubMed )
Supplement: 41431_2025_1827_MOESM1_ESM.pdf

Emery-Dreifuss muscular dystrophy.

Heller SA et al.

Muscle & Nerve, 2020

31840275 (PubMed )
Supplement: MUS-61-436-s001.docx

Atrial arrhythmias in the young: early onset atrial arrhythmias preceding a diagnosis of a primary muscular dystrophy.

Stoyanov N 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, 2014

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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."