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Rare Duplication in the RYR1 Gene Causing Malignant Hyperthermia and Clinical Variability RYR1基因罕见的重复突变导致恶性高热及临床表型变异

Genes 2025, Vol. 16, Page 1252

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2025-10-24

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Brandow W. Souza; Guilherme L. Yamamoto; Isabela A. Zogbi; Pamela V. Andrade; Joilson M. Santos; Leticia N. Feitosa; Acary S. B. Oliveira; Debora R. Bertola; Soledad Levano; Thierry Girard; Helga C. A. Silva; Mariz Vainzof