Varaico: Literature-Extracted Genetic Variants

Gene:RYR2
Variant:p.Y4939F
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RYR2

NM_001035.3:p.Y4939F

Associated Papers

RyR2 disease mutations at the C-terminal domain intersubunit interface alter closed-state stability and channel activation.

Guo W et al.

The Journal of Biological Chemistry, 2021

Minimal inflammatory foci of unknown etiology may be a tentative sign of early stage inherited cardiomyopathy.

Hata Y et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2019

Postmortem genetic analysis of sudden unexplained death syndrome under 50 years of age: A next-generation sequencing study.

Hata Y et al.

Heart Rhythm, 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."