Varaico: Literature-Extracted Genetic Variants

Gene:JPH2
Variant:p.T237A
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JPH2

NM_020433.5:p.T237A

Associated Papers

Functional characterization of a novel JPH2 variant (p.R160H) associated with dilated cardiomyopathy.

Jiao K et al.

Bmc Cardiovascular Disorders, 2025

Molecular autopsy for sudden death in Japan.

Yamamoto T et al.

Journal of Toxicologic Pathology, 2024

Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies.

Lipov A et al.

Nature Cardiovascular Research, 2023

38666070 (PubMed )
Supplement: 44161_2023_346_MOESM3_ESM.xlsx › S1

The role of junctophilin proteins in cellular function.

Lehnart SE et al.

Physiological Reviews, 2022

Sudden Unexpected Death of Infantile Dilated Cardiomyopathy with JPH2 and PKD1 Gene Variants.

Miura A et al.

International Heart Journal, 2020

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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."