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
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
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