TARS2 c.470 C > G is a chinese-specific founder mutation in three unrelated families with mitochondrial encephalomyopathy.
Zhang S, Qin H, Wang Q, Wang Y, Liu Y, Yang Q, Luo J, Qin Z, Ji X, Kan L, Geng G, Huang J, Wei S, Chen Q, Shen Y, Yuan H, Lai B.
Zhang S, et al. Among authors: kan l.
Orphanet J Rare Dis. 2024 Oct 11;19(1):376. doi: 10.1186/s13023-024-03365-w.
Orphanet J Rare Dis. 2024.
PMID: 39394138
Free PMC article.