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J. Cossins, et al., “The Spectrum of Mutations That Underlie the Neuromuscular Junction Synaptopathy in DOK7 Congenital Myasthenic Syndrome,” Human Molecular Genetics, Vol. 21, No. 17, 2012, pp. 3765-3775. http://dx.doi.org/10.1093/hmg/dds198

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