Varaico: Literature-Extracted Genetic Variants

Gene:DSP
Variant:p.D2757H
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DSP

NM_004415.4:p.D2757H

Associated Papers

Desmoplakin CSM models unravel mechanisms regulating the binding to intermediate filaments and putative therapeutics for cardiocutaneous diseases.

Badowski C et al.

Scientific Reports, 2024

Missense variants in the spectrin repeat domain of DSP are associated with arrhythmogenic cardiomyopathy: A family report and systematic review.

Grondin S et al.

American Journal of Medical Genetics. Part A, 2020

Postmortem genetic analysis of sudden unexplained death syndrome under 50 years of age: A next-generation sequencing study.

Hata Y et al.

Heart Rhythm, 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."