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Whole exome sequencing reveals two novel compound heterozygous mutations in TWNK as a cause of the hepatocerebral form of mitochondrial DNA depletion syndrome: a case report

Li, Xianghong ; Li, Liangshan ; Sun, Yaqi ; Lv, Fuyan ; Zhang, Guoqing ; Liu, Wenmiao ; Zhang, Meiyan ; Jiang, Hong ; Liu, Shiguo

BMC Medical Genetics, 2019, Vol.20 [Peer Reviewed Journal]

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  1. Liangshan Li
  2. Sun, Yq
  3. Jiang, H
  4. Li, Xianghong
  5. Liu, Shiguo

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