Varaico: Literature-Extracted Genetic Variants

Gene:JUP
Variant:p.W680delFs
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JUP

NM_002230.4:p.W680delFs

Associated Papers

Animal Models and Molecular Pathogenesis of Arrhythmogenic Cardiomyopathy Associated with Pathogenic Variants in Intercalated Disc Genes.

Vencato S et al.

International Journal of Molecular Sciences, 2024

Analysis of buccal mucosa as a prognostic tool in children with arrhythmogenic cardiomyopathy.

Bueno-Beti C et al.

Progress in Pediatric Cardiology, 2022

International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework.

James CA et al.

Circulation. Genomic and Precision Medicine, 2021

33831308 (PubMed )
Supplement: hcg-14-e003273-s001.pdf

Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity.

Pigors M et al.

Human Molecular Genetics, 2011

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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."