Varaico: Literature-Extracted Genetic Variants

Gene:TRMT1
Variant:p.C348R
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TRMT1

NM_001136035.4:p.C348R

Associated Papers

Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder.

Efthymiou S et al.

American Journal of Human Genetics, 2025

TRMT1-Catalyzed tRNA Modifications Are Required for Redox Homeostasis To Ensure Proper Cellular Proliferation and Oxidative Stress Survival.

Dewe JM et al.

Molecular and Cellular Biology, 2017

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."