Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder.
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Efthymiou S, et al.
Am J Hum Genet. 2025 May 1;112(5):1117-1138. doi: 10.1016/j.ajhg.2025.03.015. Epub 2025 Apr 16.
Am J Hum Genet. 2025.
PMID: 40245862
Free PMC article.
