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

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Bibliographic Details
Title: Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome.
Authors: Donkervoort, Sandra1, Mohassel, Payam1, Laugwitz, Lucia2,3, Zaki, Maha S.4, Kamsteeg, Erik‐Jan5, Maroofian, Reza6, Chao, Katherine R.7, Verschuuren‐Bemelmans, Corien C.8, Horber, Veronka3, Fock, Annemarie J. M.9, McCarty, Riley M.1, Jain, Minal S.10, Biancavilla, Victoria10, McMacken, Grace11, Nalls, Matthew1, Voermans, Nicol C.12, Elbendary, Hasnaa M.4, Snyder, Molly13, Cai, Chunyu14, Lehky, Tanya J.15
Source: American Journal of Medical Genetics. Part A; Oct2020, Vol. 182 Issue 10, p2272-2283, 12p
Database: Applied Science & Technology Source
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