Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.A210D
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DES

NM_001927.4:p.A210D

Associated Papers

Genotype is associated with left ventricular reverse remodelling and early events in recent-onset dilated cardiomyopathy.

Kubanek M et al.

Esc Heart Failure, 2024

39129193 (PubMed )
Supplement: EHF2-11-4127-s002.xlsx › non-ttn_up

Natural History, Phenotype Spectrum and Clinical Outcomes of Desmin (DES)-Associated Cardiomyopathy.

Asatryan B et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

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

Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial Dysfunction.

Kubánek M et al.

Journal of Clinical Medicine, 2020

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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."