Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome

Sandra Donkervoort, Payam Mohassel, Lucia Laugwitz, Maha S. Zaki, Erik Jan Kamsteeg, Reza Maroofian, Katherine R. Chao, Corien C. Verschuuren-Bemelmans, Veronka Horber, Annemarie J.M. Fock, Riley M. McCarty, Minal S. Jain, Victoria Biancavilla, Grace McMacken, Matthew Nalls, Nicol C. Voermans, Hasnaa M. Elbendary, Molly Snyder, Chunyu Cai, Tanya J. LehkyValentina Stanley, Susan T. Iannaccone, A. Reghan Foley, Hanns Lochmüller, Joseph Gleeson, Henry Houlden, Tobias B. Haack, Rita Horvath, Carsten G. Bönnemann

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