Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.S57L
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DES

NM_001927.4:p.S57L

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-s001.docx

Mutational and clinical spectrum of myofibrillar myopathy in one center from China.

Wang Q et al.

Journal of Neuromuscular Diseases, 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

Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Dellefave-Castillo LM et al.

Jama Cardiology, 2022

35947370 (PubMed )
Supplement: jamacardiol-e222455-s002.xlsx › Supplemental_Table3_rollup

Genotype and Cardiac Outcomes in Pediatric Dilated Cardiomyopathy.

Khan RS et al.

Journal of the American Heart Association, 2022

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

Kubánek M et al.

Journal of Clinical Medicine, 2020

Broad-based molecular autopsy: a potential tool to investigate the involvement of subtle cardiac conditions in sudden unexpected death in infancy and early childhood.

Santori M et al.

Archives of Disease in Childhood, 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."