Varaico: Literature-Extracted Genetic Variants

Gene:DSP
Variant:p.R1458*
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DSP

NM_004415.4:p.R1458*

Associated Papers

Prevalence of Pathogenic and Likely Pathogenic Variants Associated with Cardiovascular Diseases in Russian Adults and Long-Living Individuals.

Dzhumaniiazova I et al.

Genes, 2025

41153446 (PubMed )
Supplement: genes-16-01228-s001.zip › genes-3881151-supplementary_tables.xlsx › S1

Arrhythmogenic left ventricular cardiomyopathy caused by a novel likely pathogenic DSP mutation, p.K1165Rfs*8, in a family with sudden cardiac death.

Azimi A et al.

Bmc Medical Genomics, 2023

Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant.

Hoorntje ET et al.

Circulation. Genomic and Precision Medicine, 2023

36580316 (PubMed )
Supplement: EMS158320-supplement-Supplemental_Tables.xlsx › Table_SII

Desmoplakin and clinical manifestations of desmoplakin cardiomyopathy.

Yuan ZY et al.

Chinese Medical Journal, 2021

Pathogenic Variants Associated With Dilated Cardiomyopathy Predict Outcome in Pediatric Myocarditis.

Seidel F et al.

Circulation. Genomic and Precision Medicine, 2021

34213952 (PubMed )
Supplement: hcg-14-e003250-s002.pdf

Familial Recurrent Myocarditis Triggered by Exercise in Patients With a Truncating Variant of the Desmoplakin Gene.

Poller W et al.

Journal of the American Heart Association, 2020

Autosomal Recessive Cardiomyopathy Presenting as Acute Myocarditis.

Belkaya S et al.

Journal of the American College of Cardiology, 2017

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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."