Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.Q219fs
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EMD

NM_000117.3:p.Q219fs

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

Emery-Dreifuss muscular dystrophy.

Heller SA et al.

Muscle & Nerve, 2020

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

X-linked Emery-Dreifuss muscular dystrophy manifesting with adult onset axial weakness, camptocormia, and minimal joint contractures.

Brisset M et al.

Neuromuscular Disorders : Nmd, 2019

FHL1B Interacts with Lamin A/C and Emerin at the Nuclear Lamina and is Misregulated in Emery-Dreifuss Muscular Dystrophy.

Ziat E et al.

Journal of Neuromuscular Diseases, 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."