Multiple mechanisms lead to loss-of-function effects of SARS2 variants: implications for genotype-phenotype analyses
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Seryl-tRNA synthetase 2 (SARS2) encodes the enzyme responsible for charging tRNA with serine in the mitochondria. SARS2 has been associated with a spectrum of recessive diseases including HUPRA syndrome and progressive spastic paresis (PSP). Previous studies s... ...
