Varaico: Literature-Extracted Genetic Variants

Gene:TARS2
Variant:p.R330insFs
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TARS2

NM_025150.5:p.R330insFs

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

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
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