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Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings

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Description scientific article published on 14 October 2021
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author: Christian Thiel  Melissa Baerenfaenger  Blai Morales-Romero  Alejandro Garanto  Rita Barone  Matthew Wilson 

Publication date October 14, 2021
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