Publications
Export 2 results:
Author Title [ Year
] Filters: Author is Donkervoort, Sandra and Keyword is Phenotype [Clear All Filters]
Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome. Am J Med Genet A 182, 2272-2283 (2020).
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. Genet Med 23, 653-660 (2021).
