Varaico: Literature-Extracted Genetic Variants

Gene:RYR2
Variant:p.I4827T
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RYR2

NM_001035.3:p.I4827T

Associated Papers

Localization of the 12.6-kDa FK506-binding protein (FKBP12.6) binding site to the NH2-terminal domain of the cardiac Ca2+ release channel (ryanodine receptor).

Masumiya H et al.

The Journal of Biological Chemistry, 2003

Isoform-dependent formation of heteromeric Ca2+ release channels (ryanodine receptors).

Xiao B et al.

The Journal of Biological Chemistry, 2002

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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."