Varaico: Literature-Extracted Genetic Variants

Gene:DSP
Variant:p.Q90*
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DSP

NM_004415.4:p.Q90*

Associated Papers

Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant.

Hoorntje ET et al.

Circulation. Genomic and Precision Medicine, 2023

36580316 (PubMed )
Supplement: EMS158320-supplement-Supplemental_Tables.xlsx › Table_SII

An accessible insight into genetic findings for transplantation recipients with suspected genetic kidney disease.

Wang Z et al.

Npj Genomic Medicine, 2021

34215756 (PubMed )
Supplement: 41525_2021_219_MOESM1_ESM.pdf

Secondary findings in 421 whole exome-sequenced Chinese children.

Chen W et al.

Human Genomics, 2018

Molecular Autopsy for Sudden Death in the Young: Is Data Aggregation the Key?

Rueda M et al.

Frontiers in Cardiovascular Medicine, 2017

A case for genetic testing: Arrhythmogenic cardiomyopathy presenting as myocarditis.

Srinivas RE et al.

Annals of Pediatric Cardiology, 0

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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."