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Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome.

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Title: Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome.
Authors: Donkervoort, Sandra1, Mohassel, Payam1, Laugwitz, Lucia2,3, Zaki, Maha S.4, Kamsteeg, Erik‐Jan5, Maroofian, Reza6, Chao, Katherine R.7, Verschuuren‐Bemelmans, Corien C.8, Horber, Veronka3, Fock, Annemarie J. M.9, McCarty, Riley M.1, Jain, Minal S.10, Biancavilla, Victoria10, McMacken, Grace11, Nalls, Matthew1, Voermans, Nicol C.12, Elbendary, Hasnaa M.4, Snyder, Molly13, Cai, Chunyu14, Lehky, Tanya J.15
Source: American Journal of Medical Genetics. Part A; Oct2020, Vol. 182 Issue 10, p2272-2283, 12p
Database: Applied Science & Technology Source
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Header DbId: aci
DbLabel: Applied Science & Technology Source
An: 145753773
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
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  Data: Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome.
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  Data: <searchLink fieldCode="JN" term="%22American+Journal+of+Medical+Genetics%2E+Part+A%22">American Journal of Medical Genetics. Part A</searchLink>; Oct2020, Vol. 182 Issue 10, p2272-2283, 12p
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=aci&AN=145753773
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        Value: 10.1002/ajmg.a.61765
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        Text: English
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              Text: Oct2020
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