Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.A135V
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DES

NM_001927.4:p.A135V

Associated Papers

Phenotype and Clinical Outcomes in Desmin-Related Arrhythmogenic Cardiomyopathy.

Bermudez-Jimenez FJ et al.

Jacc. Clinical Electrophysiology, 2024

The N-Terminal Part of the 1A Domain of Desmin Is a Hot Spot Region for Putative Pathogenic DES Mutations Affecting Filament Assembly.

Brodehl A et al.

Cells, 2022

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Zhou Y et al.

Bmc Medical Genetics, 2020

32682410 (PubMed )
Supplement: 12881_2020_1087_MOESM1_ESM.xlsx › HL3
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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."