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Molecular and Clinical Characterization of a Founder Mutation Causing G6PC3 Deficiency.
Zhen X, Betti MJ, Kars ME, Patterson AR, Medina-Torres EA, Scheffler Mendoza SC, Herrera Sánchez DA, Lopez-Herrera G, Svyryd Y, Mutchinick OM, Gamazon ER, Rathmell JC, Itan Y, Markle J, O'Farrill Romanillos P, Lugo-Reyes SO, Martinez-Barricarte R. Zhen X, et al. J Clin Immunol. 2024 Dec 4;45(1):53. doi: 10.1007/s10875-024-01836-0. J Clin Immunol. 2024. PMID: 39630167 Free PMC article.