Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.D63Splc
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EMD

NM_000117.3:p.D63Splc

Associated Papers

Unexpected Genetic Twists in Patients with Cardiac Devices.

Goanta EV et al.

Journal of Clinical Medicine, 2024

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: Study Of X-Chromosome Inactivation and Its Relation with Clinical Phenotypes in Female Carriers.

Viggiano E et al.

Genes, 2019

Emerin Is Required for Proper Nucleus Reassembly after Mitosis: Implications for New Pathogenetic Mechanisms for Laminopathies Detected in EDMD1 Patients.

Dubińska-Magiera M et al.

Cells, 2019

Novel pathogenic variants and genes for myopathies identified by whole exome sequencing.

Hunter JM et al.

Molecular Genetics & Genomic Medicine, 2015

[Atrial mechanical and electrical dysfunction in patient with Emery-Dreifuss muscular dystrophy reason of change in electrotherapeutical approach: frequent result of rare disease].

Steckiewicz R et al.

Kardiologia Polska, 2013

Expression of emerin and lamins in muscle of patients with different forms of Emery-Dreifuss muscular dystrophy.

Niebroj-Dobosz I et al.

Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2003

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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."