Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.M1I
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EMD

NM_000117.3:p.M1I

Associated Papers

Phenotypic Variability in iPSC-Induced Cardiomyocytes and Cardiac Fibroblasts Carrying Diverse LMNA Mutations.

Yang J et al.

Frontiers in Physiology, 2021

Emery-Dreifuss muscular dystrophy.

Heller SA et al.

Muscle & Nerve, 2020

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

Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy.

Madej-Pilarczyk A et al.

Folia Neuropathologica, 2016

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."