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Predictive modeling provides insight into the clinical heterogeneity associated with TARS1 loss-of-function mutations

2024-03-27

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<h4>ABSTRACT</h4> Aminoacyl-tRNA synthetases (ARSs) are ubiquitously expressed, essential enzymes that complete the first step of protein translation: ligation of amino acids to cognate tRNAs. Genes encoding ARSs have been implicated in myriad dominant and recessive phenotypes, the latter often affecting multiple tissues but with frequent involvement of the central and peripheral nervous system, liver, and lungs....

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Literature Corpus work: b3012bb2-d2c0-570b-8295-db5239b56190
DOI: 10.1101/2024.03.25.586600

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Predictive modeling provides insight into the clinical heterogeneity associated with <i>TARS1</i> loss-of-function mutations

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