Varaico: Literature-Extracted Genetic Variants

Gene:DSP
Variant:p.T2104fs
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DSP

NM_004415.4:p.T2104fs

Associated Papers

Desmoplakin cardiomyopathy: recent updates in natural history and management.

Hoffman-Andrews L et al.

Current Opinion in Cardiology, 2025

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

A novel desmoplakin mutation causes dilated cardiomyopathy with palmoplantar keratoderma as an early clinical sign.

Karvonen V et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2022

Desmoplakin and clinical manifestations of desmoplakin cardiomyopathy.

Yuan ZY et al.

Chinese Medical Journal, 2021

DSP p.(Thr2104Glnfs*12) variant presents variably with early onset severe arrhythmias and left ventricular cardiomyopathy.

Heliö K et al.

Bmc Medical Genetics, 2020

Desmoplakin Gene Variants and Risk for Arrhythmogenic Cardiomyopathy.

Favre B et al.

Circulation. Genomic and Precision Medicine, 2018

Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy.

Akinrinade O et al.

European Heart Journal, 2015

[Genetic testing in cardiologic diagnostics].

Heliö T et al.

Duodecim; Laaketieteellinen Aikakauskirja, 2010

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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."