| Title : Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome - Donkervoort_2020_Am.J.Med.Genet.A_182_2272 |
| Author(s) :
Donkervoort S , Mohassel P , Laugwitz L , Zaki MS , Kamsteeg EJ , Maroofian R , Chao KR , Verschuuren-Bemelmans CC , Horber V , Fock AJM , McCarty RM , Jain MS , Biancavilla V , McMacken G , Nalls M , Voermans NC , Elbendary HM , Snyder M , Cai C , Lehky TJ , Stanley V , Iannaccone ST , Foley AR , Lochmuller H , Gleeson J , Houlden H , Haack TB , Horvath R , Bonnemann CG |
|
Ref :
American Journal of Medicine Genet A , 182 :2272 , 2020 |
| Abstract : Donkervoort_2020_Am.J.Med.Genet.A_182_2272 |
| ESTHER : Donkervoort_2020_Am.J.Med.Genet.A_182_2272 |
| PubMedSearch : Donkervoort_2020_Am.J.Med.Genet.A_182_2272 |
| PubMedID: 32776697 |