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Liting Zhai et al.
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A. Maerkens et al.
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Structural basis for the recruitment of glycogen synthase by glycogenin
Elton Zeqiraj et al.
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Heinrich Brinkmeier et al.
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Johanna Nilsson et al.
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Anders Oldfors et al.
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Interaction between glycogenin and glycogen synthase
Alexander V. Skurat et al.
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