Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease
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DOI: 10.1093/hmg/ddy344
Abstract: Aminoacyl-tRNA synthetases (ARSs) are critical for protein translation. Pathogenic variants of ARSs have been previously associated with peripheral neuropathy and multisystem disease in heterozygotes and homozygotes, respectively. We report seven related children homozygous for a… read more here.
Keywords: disease; synthetase yars; trna synthetase; tyrosyl trna ... See more keywords