Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.D336Y
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DES

NM_001927.4:p.D336Y

Associated Papers

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

Brodehl A et al.

Biophysical Reviews, 2018

Desmin in muscle and associated diseases: beyond the structural function.

Hnia K et al.

Cell and Tissue Research, 2015

Desminopathies: pathology and mechanisms.

Clemen CS et al.

Acta Neuropathologica, 2013

High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study.

Wahbi K et al.

Neuromuscular Disorders : Nmd, 2012

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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."