Varaico: Literature-Extracted Genetic Variants

Gene:JPH2
Variant:p.R138S
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JPH2

NM_020433.5:p.R138S

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

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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."