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Experts on Konzo who are based at the University of Kinshasa and Institute National de Research Biomedical (INRB) helped design and execute the research activities presented in this manuscript, in collaboration with the large group of co-authors who aided in research activities related to this work

Using structure-based analyses and cell models, including patient fibroblasts, of this variant, we found that the missense variant destabilized a critical loop, which disrupted the active site and caused a substantial loss of enzymatic function

Tatsumi, R., Sheehan, S

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