Varaico: Literature-Extracted Genetic Variants

Gene:JUP
Variant:p.A143T
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JUP

NM_002230.4:p.A143T

Associated Papers

Clinical and Genetic Findings in Patients With Palmoplantar Keratoderma.

Gram SB et al.

Jama Dermatology, 2025

39630431 (PubMed )
Supplement: jamadermatol-e244824-s001.pdf

Arrhythmogenic Right Ventricular Cardiomyopathy Post-Mortem Assessment: A Systematic Review.

Cianci V et al.

International Journal of Molecular Sciences, 2024

Clinical and Genetic Features of Korean Inherited Arrhythmia Probands.

Jeong JH et al.

Korean Circulation Journal, 2023

Genetic Analysis of Cardiac Syncope-Related Genes in Korean Patients with Recurrent Neurally Mediated Syncope.

Lee SH et al.

Journal of Cardiovascular Development and Disease, 2022

36005429 (PubMed )
Supplement: jcdd-09-00265-s001.zip › jcdd-1819276-supplementary.pdf

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

Walsh R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27532257 (PubMed )
Supplement: gim201690x1.zip › Supplementary_Tables_resubmit.xlsx › Table_S12

Postmortem genetic analysis of sudden unexplained death syndrome under 50 years of age: A next-generation sequencing study.

Hata Y et al.

Heart Rhythm, 2016

Assessment of HaloPlex amplification for sequence capture and massively parallel sequencing of arrhythmogenic right ventricular cardiomyopathy-associated genes.

Gréen A et al.

The Journal of Molecular Diagnostics : Jmd, 2015

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

Pigors M et al.

Human Molecular Genetics, 2011

Lower than expected desmosomal gene mutation prevalence in endurance athletes with complex ventricular arrhythmias of right ventricular origin.

La Gerche A et al.

Heart (british Cardiac Society), 2010

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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."