Publications
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[ Author] Title Year Filters: First Letter Of Last Name is F and Author is Friedman, Jennifer [Clear All Filters]
Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy. Nat Commun 10, 707 (2019).
Pyruvate dehydrogenase complex-E2 deficiency causes paroxysmal exercise-induced dyskinesia. Neurology 89, 2297-2298 (2017).