Varaico: Literature-Extracted Genetic Variants

Gene:RYR2
Variant:p.Y2476D
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RYR2

NM_001035.3:p.Y2476D

Associated Papers

Generation of human induced pluripotent stem cell lines from three patients affected by Catecholaminergic Polymorphic ventricular tachycardia (CPVT) carrying heterozygous mutations in RYR2 gene.

Cimarosti B et al.

Stem Cell Research, 2022

"Ryanopathies" and RyR2 dysfunctions: can we further decipher them using in vitro human disease models?

Sleiman Y et al.

Cell Death & Disease, 2021

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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."