Varaico: Literature-Extracted Genetic Variants

Gene:DSP
Variant:p.R1951*
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DSP

NM_004415.4:p.R1951*

Associated Papers

Setting the stage for cardiomyopathy gene editing trials: a systematic review of isogenic pair use in human induced pluripotent stem cell-derived cardiomyocyte research.

van der Wilt CN et al.

European Heart Journal Open, 2026

41536960 (PubMed )
Supplement: oeaf161_supplementary_data.zip › Table_S1_20251130.xlsx › Sheet1

Characteristics and pharmacological responsiveness in hiPSC models of inherited cardiomyopathy.

Gerritse M et al.

Pharmacology & Therapeutics, 2025

The Diagnostic Value of the 12-Lead ECG in Arrhythmogenic Left Ventricular Cardiomyopathy: Novel ECG Signs.

Calò L et al.

Jacc. Clinical Electrophysiology, 2023

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

DSP-Related Cardiomyopathy as a Distinct Clinical Entity? Emerging Evidence from an Italian Cohort.

Di Lorenzo F et al.

International Journal of Molecular Sciences, 2023

Case report: DSP truncation variant p. R1951X leads to arrhythmogenic left ventricular cardiomyopathy.

Chen V et al.

European Heart Journal. Case Reports, 2022

Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation.

Cuenca S et al.

The Journal of Heart and Lung Transplantation : the Official Publication of the International Society for Heart Transplantation, 2016

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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."