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

doi:10.1111/cge.13943

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

Clinical genetics - 1 Jun 2021

Schuch Luise A, Forstner Maria, Rapp Christina K, Li Yang, Smith Desiree E C, Mendes Marisa I, Delhommel Florent, Sattler Michael, Emiralioğlu Nagehan, Taskiran Ekim Z, Orhan Diclehan, Kiper Nural, Rohlfs Meino, Jeske Tim, Hastreiter Maximilian, Gerstlauer Michael, Torrent-Vernetta Alba, Moreno-Galdó Antonio, Kammer Birgit, Brasch Frank, Reu-Hofer Simone, Griese Matthias

Abstract excerpt

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 multisystem disorders. We describe here a multisystem clinical phenotype based on bi-allelic mutations in the two genes (FARSA,...

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PMID: 33598926
DOI: 10.1111/cge.13943

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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