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Genetic Basis and Pathophysiology Most cases of MH are associated with mutations in the RYR1 gene , which encodes the ryanodine receptor type 1 (RyR1) calcium-release channel in skeletal muscle
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Cherqui S (2021) Hematopoietic stem cell gene therapy for cystinosis: from bench-to-bedside
32,33 Also, mounting evidence suggests that these different processes and enzymes have functional connections for NADPH homeostasis in cancer
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