Associated Papers
Progressive Early-Onset Leukodystrophy Related to Biallelic Variants in the KARS Gene: The First Case Described in Latin America.
Vargas A et al.
Genes, 2020
Mutations in aARS genes revealed by targeted next-generation sequencing in patients with mitochondrial diseases.
Felhi R et al.
Molecular Biology Reports, 2020
Inhibition of mitochondrial translation in fibroblasts from a patient expressing the KARS p.(Pro228Leu) variant and presenting with sensorineural deafness, developmental delay, and lactic acidosis.
Ruzzenente B et al.
Human Mutation, 2018
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