Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.R2140W
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RYR1

NM_000540.3:p.R2140W

Associated Papers

In vivo RyR1 reduction in muscle triggers a core-like myopathy.

Pelletier L et al.

Acta Neuropathologica Communications, 2020

'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies.

Garibaldi M et al.

Acta Neuropathologica Communications, 2019

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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."