Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.S8L
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EMD

NM_000117.3:p.S8L

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

Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.

Lin Y et al.

Orphanet Journal of Rare Diseases, 2021

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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."