Published in
Wiley, The American Journal of Medical Genetics - Part A, 10(182), p. 2272-2283, 2020
DOI: 10.1002/ajmg.a.61765
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Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome
Journal article published in 2020 by
Sandra Donkervoort 
,
Payam Mohassel ,
Lucia Laugwitz,
Maha S. Zaki,
Erik‐Jan-J. 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
and other authors.
,
Payam Mohassel ,
Lucia Laugwitz,
Maha S. Zaki,
Erik‐Jan-J. 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
and other authors.
This paper is made freely available by the publisher.
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