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Article

A model organism pipeline provides insight into the clinical heterogeneity of TARS1 loss-of-function variants.

HGG advances - 18 Jul 2024

Meyer-Schuman Rebecca, Cale Allison R, Pierluissi Jennifer A, Jonatzke Kira E, Park Young N, Lenk Guy M, Oprescu Stephanie N, Grachtchouk Marina A, Dlugosz Andrzej A, Beg Asim A, Meisler Miriam H, Antonellis Anthony

Abstract excerpt

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 systems, liver, and lungs. Threonyl-tRNA...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38956874
DOI: 10.1016/j.xhgg.2024.100324
PMCID: PMC11284558

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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