Associated Papers
Recessive, pathogenic AARS1 variants display variable loss-of-function and dominant-negative effects.
Kuo ME et al.
Disease Models & Mechanisms, 2025
Comprehensive assessment of recessive, pathogenic AARS1 alleles in a humanized yeast model reveals loss-of-function and dominant-negative effects.
Kuo ME et al.
Biorxiv : the Preprint Server for Biology, 2024
Expanded phenotype of AARS1-related white matter disease.
Helman G et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
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