Varaico: Literature-Extracted Genetic Variants

Gene:JPH2
Variant:p.E476*
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JPH2

NM_020433.5:p.E476*

Associated Papers

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

Molecular analysis of dilated and left ventricular noncompaction cardiomyopathies in Egyptian children.

Mehaney DA et al.

Cardiology in the Young, 2022

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