Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.F4863_D4869delFs
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RYR1

NM_000540.3:p.F4863_D4869delFs

Associated Papers

Dual role of the S5 segment in type 1 ryanodine receptor channel gating.

Murayama T et al.

Communications Biology, 2024

39294299 (PubMed )
Supplement: 42003_2024_6787_MOESM2_ESM.pdf

Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.

Zhou H et al.

Brain : a Journal of Neurology, 2007

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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."