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
Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy.
Botta E et al.
Human Molecular Genetics, 2021
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