Varaico: Literature-Extracted Genetic Variants

Gene:DSP
Variant:p.Y2862delFs
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DSP

NM_004415.4:p.Y2862delFs

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

A truncating variant altering the extreme C-terminal region of desmoplakin (DSP) suggests the crucial functional role of the region: a case report study.

Pantou MP et al.

Bmc Medical Genomics, 2023

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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."