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Missense variant c.1460 T > C (p.L487P) enhances protein degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG patients presenting with West syndrome and review of the lit... by Himmelreich, Nastassja (Author) , Dimitrov, Bianca (Author) , Zielonka, Matthias (Author) , Hüllen, Andreas (Author) , Hoffmann, Georg F. (Author) , Juenger, Hendrik (Author) , Müller, Herbert (Author) , Lorenz, Imke (Author) , Busse, Birgit (Author) , Marschall, Christoph (Author) , Schlüter, Gregor (Author) , Thiel, Christian (Author) ,

• Verlag, lizenzpflichtig, Volltext
• Verlag, lizenzpflichtig, Volltext

Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich... by Himmelreich, Nastassja (Author) , Dimitrov, Bianca (Author) , Geiger, Virginia (Author) , Zielonka, Matthias (Author) , Hutter, Anna-Marlen (Author) , Beedgen, Lars (Author) , Hüllen, Andreas (Author) , Breuer, Maximilian (Author) , Peters, Verena (Author) , Thiemann, Kai Christian (Author) , Hoffmann, Georg F. (Author) , Sinning, Irmgard (Author) , Ziegler, Andreas (Author) , Thiel, Christian (Author) ,

• Verlag, Volltext
• Verlag