Varaico: Literature-Extracted Genetic Variants

Gene:DSP
Variant:p.A2019S
Back to variants list

DSP

NM_004415.4:p.A2019S

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 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

Stop-gain mutations in PKP2 are associated with a later age of onset of arrhythmogenic right ventricular cardiomyopathy.

Alcalde M et al.

Plos One, 2014

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."