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SaveA patient-based medaka alg2 mutant as a model for hypo-N-glycosylation
Gucum, Sevinc; Sakson, Roman; Hoffmann, Marcus; Grote, Valerian; Becker, Clara; Pakari, Kaisa; Beedgen, Lars; Thiel, Christian; Rapp, Erdmann; Ruppert, Thomas; Thumberger, Thomas; Wittbrodt, Joachim
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SaveNovel 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 N-terminus
Himmelreich, Nastassja; Dimitrov, Bianca; Geiger, Virginia; Zielonka, Matthias; Hutter, Anna-Marlen; Beedgen, Lars; Huellen, Andreas; Breuer, Maximilian; Peters, Verena; Thiemann, Kai-Christian; Hoffmann, Georg F.; Sinning, Irmgard; Dupre, Thierry; Vuillaumier-Barrot, Sandrine; Barrey, Catherine; Denecke, Jonas; Koelfen, Wolfgang; Dueker, Gesche; Ganschow, Rainer; Lentze, Michael J.; Moore, Stuart; Seta, Nathalie; Ziegler, Andreas; Thiel, Christian
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