Varaico: Literature-Extracted Genetic Variants

Gene:JUP
Variant:p.Q184*
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JUP

NM_002230.4:p.Q184*

Associated Papers

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

Vahidnezhad H et al.

Scientific Reports, 2020

A Novel Mutation in Junctional Plakoglobin Causing Lethal Congenital Epidermolysis Bullosa.

Rotemberg V et al.

The Journal of Pediatrics, 2017

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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."