Biallelic loss of function variants in <scp><i>SYT2</i></scp> cause a treatable congenital onset presynaptic myasthenic syndrome
Sandra Donkervoort(National Institutes of Health), Carsten G. Bönnemann(National Institutes of Health), Tobias B. Haack(Technical University of Munich), Nicol C. Voermans, Joseph G. Gleeson(Children’s Institute), Maha S. Zaki(National Research Centre), Veronka Horber(University Children's Hospital Tübingen), Victoria Biancavilla(National Institutes of Health Clinical Center), Tanya Lehky(National Institutes of Health), Rita Horváth(University of Cambridge), Katherine R. Chao(Broad Institute), Hasnaa M. Elbendary(National Human Genome Research Institute), Susan T. Iannaccone(Scottish Rite Hospital), Lucia Laugwitz(University Children's Hospital Tübingen), Matthew Nalls(National Institutes of Health), Corien C. Verschuuren‐Bemelmans(University Medical Center Groningen), Hanns Lochmüller(University of Ottawa), Payam Mohassel(National Institutes of Health), Grace McMacken(Newcastle University), Molly Snyder(Medical City Children's Hospital), Henry Houlden(National Hospital for Neurology and Neurosurgery), Reza Maroofian(University of Exeter), A. Reghan Foley(National Institutes of Health), Erik‐Jan Kamsteeg(Radboud University Medical Center), Minal S. Jain(National Institutes of Health Clinical Center), Annemarie Fock(University Medical Center Groningen), Riley M. McCarty(National Institutes of Health), Valentina Stanley(Children’s Institute), Chunyu Cai(Southwestern Medical Center)
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