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Published in 2021 at "Brain and Development"
DOI: 10.1016/j.braindev.2020.12.008
Abstract: INTRODUCTION Aminoacyl-tRNA synthetase-interacting multifunctional protein 1 (AIMP1) is a non-catalytic component of the multi-tRNA synthetase complex that catalyzes the ligation of amino acids to their correct tRNAs. Bi-allelic truncating variants in the AIMP1 gene have…
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Keywords:
hypomyelinating leukodystrophy;
aimp1;
peripheral nerves;
aimp1 variant ... See more keywords