Varaico: Literature-Extracted Genetic Variants

Gene:JPH3
Variant:p.A405S
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JPH3

NM_020655.4:p.A405S

Associated Papers

The role of junctophilin proteins in cellular function.

Lehnart SE et al.

Physiological Reviews, 2022

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

35238659 (PubMed )
Supplement: pnas.2120416119.sapp.pdf
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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."