Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.I402N
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DES

NM_001927.4:p.I402N

Associated Papers

Pathophysiological mechanisms of cardiomyopathies induced by desmin gene variants located in the C-Terminus of segment 2B.

Geryk M et al.

Journal of Cellular Physiology, 2024

Molecular insights into cardiomyopathies associated with desmin (DES) mutations.

Brodehl A et al.

Biophysical Reviews, 2018

Autophagic vacuolar pathology in desminopathies.

Weihl CC et al.

Neuromuscular Disorders : Nmd, 2015

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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."