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    Two novel compound heterozygous mutations in NGLY1as a cause of congenital disorder of deglycosylation: a case presentation

    Two novel compound heterozygous mutations in NGLY1as a cause of congenital disorder of deglycosylation: a case presentation by Haixia Ge, Qingbin Wu, Huigang Lu, Yong Huang, Tingting Zhou, Danlin Tan, ZhongqinJin

    Published 2020
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