Associated Papers
PgxSAVy: A tool for comprehensive evaluation of variant peptide quality in proteogenomics - catching the (un)usual suspects.
Raj A et al.
Computational and Structural Biotechnology Journal, 2024
38292474 (PubMed )
Supplement: mmc3.xlsx › AD_DiseaseAnnotation
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
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
Biallelic KARS pathogenic variants cause an early-onset progressive leukodystrophy.
Itoh M et al.
Brain : a Journal of Neurology, 2019
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
KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature.
Ardissone A et al.
Orphanet Journal of Rare Diseases, 2018
Mutations in KARS cause early-onset hearing loss and leukoencephalopathy: Potential pathogenic mechanism.
Zhou XL et al.
Human Mutation, 2017
Novel Causative Variants in DYRK1A, KARS, and KAT6A Associated with Intellectual Disability and Additional Phenotypic Features.
Murray CR et al.
Journal of Pediatric Genetics, 2017
Select a paper to view details