Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder

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Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder

Author: Morava, Eva; Schatz, Ulrich A.; Torring, Pernille M.; Abbott, Mary-Alice; Baumann, Matthias; Brasch-Andersen, Charlotte; Chevalier, Nathalie; Dunkhase-Heinl, Ulrike; Fleger, Martin; Haack, Tobias B.; Nelson, Stephen; Potelle, Sven; Radenkovic, Silvia; Bommer, Guido T.; Van Schaftingen, Emile; Veiga-da-Cunha, Maria
Tübinger Autor(en):
Haack, Tobias
Published in: American Journal of Human Genetics (2021), Bd. 108, H. 6, S. 1151-1160
Verlagsangabe: Cell Press
Language: English
Full text: http://dx.doi.org/10.1016/j.ajhg.2021.04.017
ISSN: 1537-6605
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Article
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