Varaico: Literature-Extracted Genetic Variants

Gene:DSP
Variant:p.E2193K
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DSP

NM_004415.4:p.E2193K

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 Mutations in Desmoplakin Plakin Repeat Domains Have Dramatic Effects on Domain Structure and Function.

Mohammed F et al.

International Journal of Molecular Sciences, 2022

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

Novel compound heterozygous mutations in the desmoplakin gene cause hair shaft abnormalities and culminate in lethal cardiomyopathy.

Yesudian PD et al.

Clinical and Experimental Dermatology, 2014

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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."