Chang I et al. Factor VIII and vWF deficiency in STT3A-CDG. J Inherit Metab Dis. 2019;42(2):325-332. doi: 10.1002/jimd.12021. PMID: 30701557.
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Shrimal S et al. Mutations in STT3A and STT3B cause two congenital disorders of glycosylation. Hum Mol Genet. 2013;22(22):4638-45. doi:10.1093/hmg/ddt312. PMID: 23842455.
Wilson M P et al. Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings. Am J Hum Genet. 2021;108(11):2130-2144. doi: 10.1016/j.ajhg.2021.09.012. PMID: 34653363.
STT3A