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

Donkervoort, Sandra; Mohassel, Payam; Laugwitz, Lucia; Zaki, Maha S.; Kamsteeg, Erik-Jan; Maroofian, Reza; Chao, Katherine R.; Verschuuren-Bemelmans, Corien C.; Horber, Veronka; Fock, Annemarie J. M.; McCarty, Riley M.; Jain, Minal S.; Biancavilla, Victoria; McMacken, Grace; Nalls, Matthew; Voermans, Nicol C.; Elbendary, Hasnaa M.; Snyder, Molly; Cai, Chunyu; Lehky, Tanya J.; Stanley, Valentina; Iannaccone, Susan T.; Foley, A. Reghan; Lochmueller, Hanns; Gleeson, Joseph; Houlden, Henry; Haack, Tobias B.; Horvath, Rita; Bonnemann, Carsten G.

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	Article	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