Varaico: Literature-Extracted Genetic Variants

Gene:JPH2
Variant:p.V153A
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JPH2

NM_020433.5:p.V153A

Associated Papers

Structures of the junctophilin/voltage-gated calcium channel interface reveal hot spot for cardiomyopathy mutations.

Yang ZF et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

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."