Varaico: Literature-Extracted Genetic Variants

Gene:DSP
Variant:p.Q2371K
Back to variants list

DSP

NM_004415.4:p.Q2371K

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

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

A novel mutation in the desmoplakin gene in two female siblings with a rare form of dilated cardiomyopathy: Carvajal syndrome.

Ramoğlu MG et al.

Anatolian Journal of Cardiology, 2017

Two Novel Homozygous Desmoplakin Mutations in Carvajal Syndrome.

Molho-Pessach V et al.

Pediatric Dermatology, 0

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."