Varaico: Literature-Extracted Genetic Variants

Gene:TARS2
Variant:p.E715K
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TARS2

NM_025150.5:p.E715K

Associated Papers

TARS2 c.470 C > G is a chinese-specific founder mutation in three unrelated families with mitochondrial encephalomyopathy.

Zhang S et al.

Orphanet Journal of Rare Diseases, 2024

39394138 (PubMed )
Supplement: 13023_2024_3365_MOESM1_ESM.xlsx › supplementary_table

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

Gao X et al.

Neuropediatrics, 2024

Novel TARS2 variant identified in a Chinese patient with mitochondrial encephalomyopathy and a systematic review.

He P et al.

American Journal of Medical Genetics. Part A, 2023

Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease.

Zheng WQ et al.

Human Molecular Genetics, 2022

Novel compound heterozygous TARS2 variants in a Chinese family with mitochondrial encephalomyopathy: a case report.

Li X et al.

Bmc Medical Genetics, 2020

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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."