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