Varaico: Literature-Extracted Genetic Variants

Gene:DSP
Variant:p.Q1433*
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DSP

NM_004415.4:p.Q1433*

Associated Papers

Genotype and cardiac outcome in patients with cardiocutaneous syndrome (Naxos disease variant: Carvajal syndrome).

Binfadel M et al.

Orphanet Journal of Rare Diseases, 2025

A case of Carvajal syndrome presenting with dilated cardiomyopathy.

Arıcı S et al.

Cardiology in the Young, 2024

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
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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."