[HTML][HTML] Molecular and clinical characterization of a founder mutation causing G6PC3 deficiency.
X Zhen, MJ Betti, ME Kars, A Patterson… - medRxiv, 2024 - ncbi.nlm.nih.gov
Background: G6PC3 deficiency is a rare genetic disorder that causes syndromic congenital
neutropenia. It is driven by the intracellular accumulation of a metabolite named 1, 5 …
neutropenia. It is driven by the intracellular accumulation of a metabolite named 1, 5 …