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A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex

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author: Kati J Buckingham  Marie Estelle Losfeld  Michael J Bamshad  Alexey Eroshkin  Deborah A Nickerson  Martin Kircher  University of Washington Center for Mendelian Genomics  Hudson H. Freeze  Emily H Turner  Jay Shendure 

Publication date November 11, 2013
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