Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.Y122S
Back to variants list

DES

NM_001927.4:p.Y122S

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

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

Asatryan B et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."