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
34172899 (PubMed )
Supplement: NIHMS1734679-supplement-Supplementary_Table_S2.xlsx › Supplementary_Table_1
Biallelic KARS pathogenic variants cause an early-onset progressive leukodystrophy.
Itoh M et al.
Brain : a Journal of Neurology, 2019
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