Publications
Export 2 results:
Author Title [ Year
] Filters: Author is Donkervoort, Sandra and Keyword is Genetic Predisposition to Disease [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).
Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy. Nat Commun 10, 797 (2019).
