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Mutations in the translocon-associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation

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Description scientific article published on 16 April 2019
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author: Kati J Buckingham  Marie Estelle Losfeld  Michael J Bamshad  Deborah A Nickerson  Bobby G Ng  Martin Kircher  University of Washington Center for Mendelian Genomics  Hudson H. Freeze  Jay Shendure 

Publication date April 16, 2019
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