Compound heterozygous variants of the COG6 gene in a Chinese patient with deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6-CDG).
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Weiwei Guo | Tingting Yu | Jian Wang | Niu Li | Xuyun Hu | Yufei Xu | Xiumin Wang | R. Yao | Guoqiang Li