Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.D2431V
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RYR1

NM_000540.3:p.D2431V

Associated Papers

Functional analysis of RYR1 variants in Australian and New Zealand patients at risk of susceptibility to malignant hyperthermia.

Schiemann AH et al.

British Journal of Anaesthesia, 2026

OXPHOS complex deficiency in congenital myopathy: A systematic review.

du Preez MJ et al.

European Journal of Clinical Investigation, 2025

Genetic Characteristics of Brazilian Patients with MH History.

Silva HCA et al.

Genes, 2025

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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."