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 |
