Varaico: Literature-Extracted Genetic Variants

Gene:DSP
Variant:p.R2522_K2523Fs
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DSP

NM_004415.4:p.R2522_K2523Fs

Associated Papers

A frameshift variation in the DSP gene causes a novel subtype of atypical epidermolytic palmoplantar keratoderma: Case report.

Lin C et al.

Frontiers in Medicine, 2025

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_SVII

A Novel Variant in the Desmoplakin Gene in One Case of the Rare Carvajal Syndrome with Dilated Cardiomyopathy: A Case Report and Literature Review.

Zhao XJ et al.

Clinical, Cosmetic and Investigational Dermatology, 2023

Desmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy.

Pigors M et al.

Acta Dermato-venereologica, 2015

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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."