Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings - Wilson, Matthew P.; Garanto, Alejandro; Pinto e Vairo, Filippo; Ng, Bobby G.; Ranatunga, Wasantha K.; Ventouratou, Marina; Baerenfaenger, Melissa; Huijben, Karin; Thiel, Christian; Ashikov, Angel; Keldermans, Liesbeth; Souche, Erika; et al. (The American journal of human genetics, 2021)
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