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    • Journal article
    Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder.
    Morava E Schatz UA Torring PM Abbott MA Baumann M Brasch-Andersen C Chevalier, Nathalie[UCL] Dunkhase-Heinl U Fleger M Haack TB Nelson S Potelle, Sven[UCL] Radenkovic S Bommer, Guido[UCL] Van Schaftingen, Emile[UCL] Veiga da Cunha, Maria[UCL] (2021) American journal of human genetics — Vol. 108, no.6, p. 1151-1160 (2021)