Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.G251_*255del5
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EMD

NM_000117.3:p.G251_*255del5

Associated Papers

Imaging Features of Skeletal Muscle and Their Correlation With Clinical Findings in Emery-Dreifuss Muscular Dystrophy Caused by EMD Variants.

Shimazaki R et al.

Muscle & Nerve, 2026

[A case of Emery-Dreifuss muscular dystrophy with slight joint contracture].

Fujii S et al.

Rinsho Shinkeigaku = Clinical Neurology, 2020

Targeted next-generation sequencing identified a known EMD mutation in a Chinese patient with Emery-Dreifuss muscular dystrophy.

Dai X et al.

Human Genome Variation, 2019

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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."