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Related Experiment Videos

Novel mutation in the RYR1 gene (R2454C) in a patient with malignant hyperthermia

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The c.65-2A>G splice site mutation is associated with a mild phenotype in Danon disease due to the transcription of normal LAMP2 mRNA.

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Novel mutation in the RYR1 gene (R2454C) in a patient with malignant hyperthermia

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