Varaico: Literature-Extracted Genetic Variants

Gene:DSP
Variant:p.E293V
Back to variants list

DSP

NM_004415.4:p.E293V

Associated Papers

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

Variant NAXOS-Carvajal Syndrome with Rare Additional Features of Systemic Bulla and Brittle Nails: A Case Report and Literature Review.

Sato T et al.

Internal Medicine (tokyo, Japan), 2021

Comprehensive Risk Management in Arrhythmogenic Cardiomyopathy Associated With Autosomal Dominant Carvajal Syndrome: Protecting Families.

De Gregorio MG et al.

Jacc. Case Reports, 2020

The role of the TERC-63G>A and TERT-1327C>T telomerase polymorphisms in the study of men with acute coronary syndrome.

Perez-Rivera JA et al.

Minerva Cardioangiologica, 2015

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."