Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.G4896V
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RYR1

NM_000540.3:p.G4896V

Associated Papers

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

Murayama T et al.

Communications Biology, 2024

Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990-2019.

Lawal TA et al.

Orphanet Journal of Rare Diseases, 2020

Ca2+ release in muscle fibers expressing R4892W and G4896V type 1 ryanodine receptor disease mutants.

Lefebvre R et al.

Plos One, 2013

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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."