Associated Papers
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
Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.
McLaughlin HM et al.
American Journal of Human Genetics, 2010
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