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Lee D, Jang JH, , Lee CG.  Smith–Kingsmore syndrome: The first report of a Korean patient with the MTOR germline mutation c.5395G>A p.(Glu1799Lys).  Journal of Genetic Medicine 2019;16:27-30.  https://doi.org/10.5734/JGM.2019.16.1.27
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