Homo sapiens cDNA FLJ52053 complete cds, highly similar to Phosphomann - Nucleotide

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Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models. [Cell Rep. 2024]
Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models.
Radenkovic S, Budhraja R, Klein-Gunnewiek T, King AT, Bhatia TN, Ligezka AN, Driesen K, Shah R, Ghesquière B, Pandey A, et al. Cell Rep. 2024 Mar 26; 43(3):113883. Epub 2024 Mar 1.
Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study. [Sci Rep. 2023]
Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study.
Epifani F, Pujol Serra SM, Llorens M, Balcells S, Nolasco G, Bolasell M, Aguilera-Albesa S, Cancho Candela R, Cuevas Cervera JL, García Sánchez V, et al. Sci Rep. 2023 Dec 20; 13(1):22783. Epub 2023 Dec 20.
Multisite phosphorylation dictates selective E2-E3 pairing as revealed by Ubc8/UBE2H-GID/CTLH assemblies. [Mol Cell. 2024]
Multisite phosphorylation dictates selective E2-E3 pairing as revealed by Ubc8/UBE2H-GID/CTLH assemblies.
Chrustowicz J, Sherpa D, Li J, Langlois CR, Papadopoulou EC, Vu DT, Hehl LA, Karayel Ö, Beier V, von Gronau S, et al. Mol Cell. 2024 Jan 18; 84(2):293-308.e14. Epub 2023 Dec 18.

RefSeq alternative splicing
See 3 reference mRNA sequence splice variants for the PMM2 gene.

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Nucleotide