Novel partial loss-of-function variants in the tyrosyl-tRNA synthetase 1 (YARS1) gene involved in multisystem disease.
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DOI: 10.1016/j.ejmg.2021.104294
Abstract: Cytoplasmic aminoacyl-tRNA synthetases (ARSs) are emerging as a cause of numerous rare inherited diseases. Recently, biallelic variants in tyrosyl-tRNA synthetase 1 (YARS1) have been described in ten patients of three families with multi-systemic disease (failure… read more here.
Keywords: variants tyrosyl; synthetase yars1; yars1; trna synthetase ... See more keywords