1. Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome. Issue 10 (10th August 2020) Authors: Donkervoort, Sandra; Mohassel, Payam; Laugwitz, Lucia; Zaki, Maha S.; Kamsteeg, Erik‐Jan; Maroofian, Reza; Chao, Katherine R.; Verschuuren‐Bemelmans, Corien C.; Horber, Veronka; Fock, Annemarie J. M.; McCarty, Riley M.; Jain, Minal S.; Biancavilla, Victoria; McMacken, Grace; Nalls, Matthew; Voerm... Journal: American journal of medical genetics Issue: Volume 182:Issue 10(2020) Page Start: 2272 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗