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Ravenscroft, G., Zaharieva, I.T., Bortolotti, C.A., Lambrughi, M., Pignataro, M., Borsari, M., et al. (2018) Bi-Allelic Mutations in MYL1 Cause a Severe Congenital Myopathy. Human Molecular Genetics, 27, 4263-4272.
https://doi.org/10.1093/hmg/ddy320

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