Compound heterozygous variants of the COG6 gene in a...

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European Journal of Medical Genetics 2018 / 4

Compound heterozygous variants of the COG6 gene in a Chinese patient with deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6-CDG)

Li, Guoqiang, Xu, Yufei, Hu, Xuyun, Li, Niu, Yao, Ruen, Yu, Tingting, Wang, Xiumin, Guo, Weiwei, Wang, Jian
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Language:
english
Journal:
European Journal of Medical Genetics
DOI:
10.1016/j.ejmg.2018.04.017
Date:
April, 2018
File:
PDF, 2.92 MB
english, 2018
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