Varaico: Literature-Extracted Genetic Variants

Gene:JPH2
Variant:p.E632D
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JPH2

NM_020433.5:p.E632D

Associated Papers

Correction: "Re-evaluation of variants of uncertain significance in patients with hereditary arrhythmogenic disorders".

Martin S et al.

Bmc Cardiovascular Disorders, 2024

39482628 (PubMed )
Supplement: 12872_2024_4286_MOESM1_ESM.xlsx › Tabelle1

"Re-evaluation of variants of uncertain significance in patients with hereditary arrhythmogenic disorders".

Martin S et al.

Bmc Cardiovascular Disorders, 2024

39068400 (PubMed )
Supplement: 12872_2024_4065_MOESM2_ESM.xlsx › Tabelle1

Mutation in JPH2 cause dilated cardiomyopathy.

Sabater-Molina M et al.

Clinical Genetics, 2016

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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."