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doi: 10.1186/s40709-020-00131-4 275 ZhiLLiangJHuangWMaJQingZWangX

Biallelic truncating mutations in ZnT5/ZnT6 similarly lead to congenital disorders of glycosylation type II, presenting clinically with hypoglycosylated transferrin, osteopenia, developmental delay and multisystem involvement 78

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