Missense mutations in SLC25A1 are associated with congenital myasthenic syndrome type 23

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Al-Futaisi, A., Ahmad, F., Al-Kasbi, G., Al-Thihli, K., Koul, R., & Al-Maawali, A. (2020, April 1). Missense mutations in SLC25A1 are associated with congenital myasthenic syndrome type 23. Clinical Genetics. Blackwell Publishing Ltd. https://doi.org/10.1111/cge.13678

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