Recessive congenital myasthenic syndrome caused by a homozygous mutation in SYT2 altering a highly conserved C-terminal amino acid sequence
Maselli, Ricardo A., van der Linden, Hélio, Ferns, MichaelJournal:
American Journal of Medical Genetics Part A
DOI:
10.1002/ajmg.a.61579
Date:
April, 2020
File:
PDF, 2.60 MB
2020