Varaico: Literature-Extracted Genetic Variants

Gene:JPH2
Variant:p.R5R
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JPH2

NM_020433.5:p.R5R

Associated Papers

Novel junctophilin-2 mutation A405S is associated with basal septal hypertrophy and diastolic dysfunction.

Quick AP et al.

Jacc. Basic to Translational Science, 2017

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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."