Varaico: Literature-Extracted Genetic Variants

Gene:JPH2
Variant:p.A181delFs
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JPH2

NM_020433.5:p.A181delFs

Associated Papers

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

Jiao K et al.

Bmc Cardiovascular Disorders, 2025

Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.

Heliö K et al.

Frontiers in Cardiovascular Medicine, 2023

37795486 (PubMed )
Supplement: Table2.xlsx › Supplement_2

The role of junctophilin proteins in cellular function.

Lehnart SE et al.

Physiological Reviews, 2022

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