Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.Q133_V134Splc
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EMD

NM_000117.3:p.Q133_V134Splc

Associated Papers

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

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."