Search Results - Liangshan Li

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    A Novel Homozygous VPS13B Splice-Site Mutation Causing the Skipping of Exon 38 in a Chinese Family With Cohen Syndrome by Liangshan Li, Liangshan Li, Xiangmao Bu, Yuhua Ji, Ping Tan, Shiguo Liu

    Published 2021
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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 by Xianghong Li, Liangshan Li, Yaqi Sun, Fuyan Lv, Guoqing Zhang, Wenmiao Liu, Meiyan Zhang, Hong Jiang, Shiguo Liu

    Published 2019
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