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
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
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
Genome sequencing of 320 Chinese children with epilepsy: a clinical and molecular study.
Zou D et al.
Brain : a Journal of Neurology, 2021
34145886 (PubMed )
Supplement: awab233_supplementary_data.pdf
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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