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FARS1 ‐related disorders caused by bi‐allelic mutations in cytosolic phenylalanyl‐ tRNA synthetase genes: Look beyond the lungs!

Luise Schuch et al.
HAL (France) · Papers
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Abstract Aminoacyl‐tRNA synthetases (ARSs) catalyze the first step of protein biosynthesis (canonical function) and have additional (non‐canonical) functions outside of translation. Bi‐allelic pathogenic variants in genes encoding ARSs are associated with various recessive mitochondrial and multisys
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