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STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.
Zaharieva, Irina T.; Sarkozy, Anna; Munot, Pinki et al.
2018 • In Human Mutation, 39 (12), p. 1980-1994

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humu-2018-0183(humu_23635)-1.pdf

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