Associated Papers
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
The Cause of Hereditary Hearing Loss in GJB2 Heterozygotes-A Comprehensive Study of the GJB2/DFNB1 Region.
Safka Brozkova D et al.
Genes, 2021
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
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 KARS cause a severe neurological and neurosensory disease with optic neuropathy.
Scheidecker S et al.
Human Mutation, 2019
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