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Biallelic loss of function variants inSYT2cause a treatable..:

Donkervoort, Sandra ; Mohassel, Payam ; Laugwitz, Lucia...
American Journal of Medical Genetics Part A. 182 (2020) 10 - p. 2272-2283 , 2020

Link: https://doi.org/10.1002/ajmg.a.61765

RT Journal
T1 <Title>Biallelic loss of function variants inSYT2cause a treatable congenital onset presynaptic myasthenic syndrome</Title>

UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.61765&Exemplar=1&LAN=DE
				
A1 Donkervoort, Sandra
A1 Mohassel, Payam
A1 Laugwitz, Lucia
A1 Zaki, Maha S.
A1 Kamsteeg, Erik‐Jan
A1 Maroofian, Reza
A1 Chao, Katherine R.
A1 Verschuuren‐Bemelmans, Corien C.
A1 Horber, Veronka
A1 Fock, Annemarie J. M.
A1 McCarty, Riley M.
A1 Jain, Minal S.
A1 Biancavilla, Victoria
A1 McMacken, Grace
A1 Nalls, Matthew
A1 Voermans, Nicol C.
A1 Elbendary, Hasnaa M.
A1 Snyder, Molly
A1 Cai, Chunyu
A1 Lehky, Tanya J.
A1 Stanley, Valentina
A1 Iannaccone, Susan T.
A1 Foley, A. Reghan
A1 Lochmüller, Hanns
A1 Gleeson, Joseph
A1 Houlden, Henry
A1 Haack, Tobias B.
A1 Horvath, Rita
A1 Bönnemann, Carsten G.
PB Wiley
YR 2020
SN 1552-4825
SN 1552-4833
JF American Journal of Medical Genetics Part A
VO 182
IS 10
SP 2272
OP 2283
LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.61765
DO https://doi.org/10.1002/ajmg.a.61765
SF ELIB - SuUB Bremen

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