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Human Mutation|May 23, 2019
Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathySophie Scheidecker, Séverine Bär, Corinne Stoetzel, et al.Clinical Genetics|February 8, 2022
Systemic inflammatory syndrome in children with FARSA deficiencyFabienne Charbit-Henrion, Roman Goguyer-Deschaumes, Keren Borensztajn, et al.Pageof 4