Atypical Presentation of IARS1‐Related Disorder: Expanding the Phenotype and Genotype
ABSTRACT Aminoacyl‐tRNA synthetases (ARSs) catalyze the formation of aminoacyl‐tRNA, which is required for protein translation. A growing number of cases are associated with ARS deficiencies. Pathogenic variants in IARS1 (MIM# 600709), encoding cytoplasmic isoleucyl‐tRNA synthetase, have been associ...
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| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2025-05-01
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| Series: | JIMD Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/jmd2.70020 |
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