Varaico: Literature-Extracted Genetic Variants

Gene:JUP
Variant:p.T249M
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JUP

NM_002230.4:p.T249M

Associated Papers

Genetic Architecture of Acute Myocarditis and the Overlap With Inherited Cardiomyopathy.

Lota AS et al.

Circulation, 2022

36154167 (PubMed )
Supplement: cir-146-1123-s001.pdf

Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.

van Lint FHM et al.

Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2019

30847666 (PubMed )
Supplement: 12471_2019_1250_MOESM2_ESM.xlsx › Blad1

A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardia.

Gray B et al.

Heart Rhythm, 2016

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