Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.L217_G218insFs
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EMD

NM_000117.3:p.L217_G218insFs

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

Profibrotic Molecules Are Reduced in CRISPR-Edited Emery-Dreifuss Muscular Dystrophy Fibroblasts.

Cattin E et al.

Cells, 2025

Genotype-Phenotype Correlations in Human Diseases Caused by Mutations of LINC Complex-Associated Genes: A Systematic Review and Meta-Summary.

Storey EC et al.

Cells, 2022

36552829 (PubMed )
Supplement: cells-11-04065-s001.zip › Storey___Fuller_Supplementary_Materials_S2_Data_extraction.xlsx › INM_proteins

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

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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."