Varaico: Literature-Extracted Genetic Variants

Gene:TARS2
Variant:p.D560A
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TARS2

NM_025150.5:p.D560A

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

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