Varaico: Literature-Extracted Genetic Variants

Gene:DSP
Variant:p.Q1135*
Back to variants list

DSP

NM_004415.4:p.Q1135*

Associated Papers

Arrhythmogenic left ventricular cardiomyopathy caused by a novel likely pathogenic DSP mutation, p.K1165Rfs*8, in a family with sudden cardiac death.

Azimi A et al.

Bmc Medical Genomics, 2023

Recurrent acute myocarditis: An under-recognized clinical entity associated with the later diagnosis of a genetic arrhythmogenic cardiomyopathy.

Ollitrault P et al.

Frontiers in Cardiovascular Medicine, 2022

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."