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