Varaico: Literature-Extracted Genetic Variants

Gene:DSP
Variant:p.L2031delFs
Back to variants list

DSP

NM_004415.4:p.L2031delFs

Associated Papers

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_SVII

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

Desmoplakin and clinical manifestations of desmoplakin cardiomyopathy.

Yuan ZY et al.

Chinese Medical Journal, 2021

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."