Associated Papers
Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report.
Peluso F et al.
Bmc Medical Genomics, 2021
Biallelic KARS pathogenic variants cause an early-onset progressive leukodystrophy.
Itoh M et al.
Brain : a Journal of Neurology, 2019
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