Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.P51delFs
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EMD

NM_000117.3:p.P51delFs

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

40065010 (PubMed )
Supplement: 41431_2025_1827_MOESM1_ESM.pdf

Human iPSC-Derived Muscle Cells as a New Model for Investigation of EDMD1 Pathogenesis.

Lisowska M et al.

International Journal of Molecular Sciences, 2025

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

Genetic muscle disorder mimicking atrial arrhythmias with conduction defects requiring pacemaker implantation.

Kalin K et al.

Polish Archives of Internal Medicine, 2019

Tissue inhibitors of matrix metalloproteinases in serum are cardiac biomarkers in Emery-Dreifuss muscular dystrophy.

Niebroj-Dobosz IM et al.

Kardiologia Polska, 2015

Osteopontin--a fibrosis-related marker--in dilated cardiomyopathy in patients with Emery-Dreifuss muscular dystrophy.

Niebroj-Dobosz I et al.

Scandinavian Journal of Clinical and Laboratory Investigation, 2011

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."