Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.L112Q
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DES

NM_001927.4:p.L112Q

Associated Papers

Desmin-p.L112Q Disturbs Filament Formation and Is a Likely-Pathogenic Variant Associated with Dilated Cardiomyopathy.

Lütkemeyer A et al.

Journal of Cardiovascular Development and Disease, 2025

Genetic Profiling and Phenotype Spectrum in a Chinese Cohort of Pediatric Cardiomyopathy Patients.

Xing G et al.

Journal of Cardiovascular Development and Disease, 2025

Mechanistic basis of desmosome-targeted diseases.

Al-Jassar C et al.

Journal of Molecular Biology, 2013

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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."