Varaico: Literature-Extracted Genetic Variants

Gene:JUP
Variant:p.W680fs
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JUP

NM_002230.4:p.W680fs

Associated Papers

A Systematic Analysis of the Clinical Outcome Associated with Multiple Reclassified Desmosomal Gene Variants in Arrhythmogenic Right Ventricular Cardiomyopathy Patients.

Nagyova E et al.

Journal of Cardiovascular Translational Research, 2023

Towards a Better Understanding of Genotype-Phenotype Correlations and Therapeutic Targets for Cardiocutaneous Genes: The Importance of Functional Studies above Prediction.

Vermeer MCSC et al.

International Journal of Molecular Sciences, 2022

Arrhythmogenic right ventricular cardiomyopathy in patients with biallelic JUP-associated skin fragility.

Vahidnezhad H et al.

Scientific Reports, 2020

Common presentation of rare diseases: Arrhythmogenic right ventricular cardiomyopathy and its mimics.

Tsatsopoulou A et al.

International Journal of Cardiology, 2018

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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."