Varaico: Literature-Extracted Genetic Variants

Gene:DSP
Variant:p.N1246insFs
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DSP

NM_004415.4:p.N1246insFs

Associated Papers

Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.

Wang H et al.

Scientific Reports, 2025

40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3

Desmoplakin and clinical manifestations of desmoplakin cardiomyopathy.

Yuan ZY et al.

Chinese Medical Journal, 2021

A Novel DSP Truncating Variant in a Family with Episodic Myocardial Injury in the Course of Arrhythmogenic Cardiomyopathy-A Possible Role of a Low Penetrance NLRP3 Variant.

Chmielewski P et al.

Diagnostics (basel, Switzerland), 2020

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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."