1 | DSDFEH, PGM2L1
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| Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder
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| Morava E, Schatz UA, Torring PM, Abbott MA, Baumann M, Brasch-Andersen C, Chevalier N, Dunkhase-Heinl U, Fleger M, Haack TB, Nelson S, Potelle S, Radenkovic S, Bommer GT, Van Schaftingen E, Veiga-da-Cunha M.
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| Am J Hum Genet. jun 3;108(6):1151-1160. doi: 10.1016/j.ajhg.2021.04.017. Epub 2021 May 11. 2021
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2 | PGM2, PGM2L1, PGM3, PGM5
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| Sequence-structure relationships, expression profiles, and disease-associated mutations in the paralogs of phosphoglucomutase 1
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| Muenks AG, Stiers KM, Beamer LJ.
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| PLoS One. Aug 24;12(8):e0183563. doi: 10.1371/journal.pone.0183563. 2017
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3 | PGM2, PGM2L1, PMM1, PMM2
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| Mammalian phosphomannomutase PMM1 is the brain IMP-sensitive glucose-1,6-bisphosphatase.
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| Veiga-da-Cunha M, Vleugels W, Maliekal P, Matthijs G, Van Schaftingen E.
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| J Biol Chem 283(49):33988-93. Epub 2008 Oct 16.
2008
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4 | PGM2, PGM2L1
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| Molecular identification of mammalian phosphopentomutase and glucose-1,6-bisphosphate synthase, two members of the alpha-D-phosphohexomutase family.
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| Maliekal P, Sokolova T, Vertommen D, Veiga-da-Cunha M, Van Schaftingen E.
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| J Biol Chem 282(44):31844-51. Epub 2007 Sep 5. 2007
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