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Year | Number of Results |
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2007 | 1 |
2021 | 1 |
2024 | 0 |
PubMed (OMIM) for id: 283209
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Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder.
Am J Hum Genet. 2021 Jun 3;108(6):1151-1160. doi: 10.1016/j.ajhg.2021.04.017. Epub 2021 May 11.
Am J Hum Genet. 2021.
PMID: 33979636
Free PMC article.
Molecular identification of mammalian phosphopentomutase and glucose-1,6-bisphosphate synthase, two members of the alpha-D-phosphohexomutase family.
Maliekal P, Sokolova T, Vertommen D, Veiga-da-Cunha M, Van Schaftingen E.
Maliekal P, et al.
J Biol Chem. 2007 Nov 2;282(44):31844-51. doi: 10.1074/jbc.M706818200. Epub 2007 Sep 5.
J Biol Chem. 2007.
PMID: 17804405
Free article.
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