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bibliographicCitation Gencik M, Gencik A, Mortier W, Epplen JT. Novel mutation in the RYR1 gene (R2454C) in a patient with malignant hyperthermia. Hum Mutat. 2000 Jan;15(1):122. doi: 10.1002/(sici)1098-1004(200001)15:1<122::aid-humu40>3.0.co;2-a. PMID: 10612851.
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title Novel mutation in the RYR1 gene (R2454C) in a patient with malignant hyperthermia
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