Publications
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Author Title [ Year
] Filters: Author is Donkervoort, Sandra and Keyword is Muscle Hypotonia [Clear All Filters]
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder. Nat Commun 12, 2558 (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).
