Varaico: Literature-Extracted Genetic Variants

Gene:TARS1
Variant:p.L346L
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TARS1

NM_152295.5:p.L346L

Associated Papers

TARS2 Variants Cause Combination Oxidative Phosphorylation Deficiency-21: A Case Report and Literature Review.

Gao X et al.

Neuropediatrics, 2024

Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder.

Accogli A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023

37454282 (PubMed )
Supplement: mmc2.xlsx › TARS2_variants
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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."