Associated Papers
Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish.
Lin SJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease.
Cappuccio G et al.
Human Mutation, 2021
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