Varaico: Literature-Extracted Genetic Variants

Gene:DSP
Variant:p.H1309fs
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DSP

NM_004415.4:p.H1309fs

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 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

Two Novel Homozygous Desmoplakin Mutations in Carvajal Syndrome.

Molho-Pessach V et al.

Pediatric Dermatology, 0

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