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Document type:
Zeitschriftenaufsatz
Author(s):
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
Title:
Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder
Journal title:
The American Journal of Human Genetics
Year:
2021
Journal volume:
108
Journal issue:
6
Pages contribution:
1151-1160
Fulltext / DOI:
doi:10.1016/j.ajhg.2021.04.017
Publisher:
Elsevier BV
E-ISSN:
0002-9297
Date of publication:
01.06.2021
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