Varaico: Literature-Extracted Genetic Variants

Gene:JPH4
Variant:p.Y141H
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JPH4

NM_001146028.2:p.Y141H

Associated Papers

One gene, two modes of inheritance, four diseases: A systematic review of the cardiac manifestation of pathogenic variants in JPH2-encoded junctophilin-2.

Parker LE et al.

Trends in Cardiovascular Medicine, 2023

The role of junctophilin proteins in cellular function.

Lehnart SE et al.

Physiological Reviews, 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."