Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.L398P
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DES

NM_001927.4:p.L398P

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

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

Kubánek M et al.

Journal of Clinical Medicine, 2020

Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.

van Waning JI et al.

Journal of the American Heart Association, 2019

Response to Brodehl et al.

Minoche AE et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy.

Horvat C et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

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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."