Biallelic loss of function variants inSYT2cause a treatable congenital onset presynaptic myasthenic syndrome

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dc.contributor.author Laugwitz, Lucia
dc.contributor.author Horber, Veronka
dc.contributor.author Haack, Tobias
dc.date.accessioned 2020-12-07T09:18:11Z
dc.date.available 2020-12-07T09:18:11Z
dc.date.issued 2020
dc.identifier.issn 1552-4833
dc.identifier.uri http://hdl.handle.net/10900/110317
dc.language.iso en de_DE
dc.publisher Wiley de_DE
dc.relation.uri http://dx.doi.org/10.1002/ajmg.a.61765 de_DE
dc.subject.ddc 570 de_DE
dc.subject.ddc 610 de_DE
dc.title Biallelic loss of function variants inSYT2cause a treatable congenital onset presynaptic myasthenic syndrome de_DE
dc.type Artikel de_DE
utue.quellen.id 20200929220116_00265
utue.publikation.seiten 2272-2283 de_DE
utue.personen.roh Donkervoort, Sandra
utue.personen.roh Mohassel, Payam
utue.personen.roh Laugwitz, Lucia
utue.personen.roh Zaki, Maha S.
utue.personen.roh Kamsteeg, Erik-Jan
utue.personen.roh Maroofian, Reza
utue.personen.roh Chao, Katherine R.
utue.personen.roh Verschuuren-Bemelmans, Corien C.
utue.personen.roh Horber, Veronka
utue.personen.roh Fock, Annemarie J. M.
utue.personen.roh McCarty, Riley M.
utue.personen.roh Jain, Minal S.
utue.personen.roh Biancavilla, Victoria
utue.personen.roh McMacken, Grace
utue.personen.roh Nalls, Matthew
utue.personen.roh Voermans, Nicol C.
utue.personen.roh Elbendary, Hasnaa M.
utue.personen.roh Snyder, Molly
utue.personen.roh Cai, Chunyu
utue.personen.roh Lehky, Tanya J.
utue.personen.roh Stanley, Valentina
utue.personen.roh Iannaccone, Susan T.
utue.personen.roh Foley, A. Reghan
utue.personen.roh Lochmueller, Hanns
utue.personen.roh Gleeson, Joseph
utue.personen.roh Houlden, Henry
utue.personen.roh Haack, Tobias B.
utue.personen.roh Horvath, Rita
utue.personen.roh Bonnemann, Carsten G.
dcterms.isPartOf.ZSTitelID American Journal of Medical Genetics Part A de_DE
dcterms.isPartOf.ZS-Issue 10 de_DE
dcterms.isPartOf.ZS-Volume 182 de_DE
utue.fakultaet 04 Medizinische Fakultät de_DE


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