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