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10.1053/gast.2002.34173 Gastroenterology

Conclusions Our study provides a blueprint for systematic proactive experimental evaluation of missense variant effects on human enzymes using cell-based models, including experimental modeling of how the impact of variants depends on therapeutic context

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Addressing these critical gaps demands an interdisciplinary approach integrating cryogenic electron microscopy (cryo-EM) for atomic-level structural resolution, spatially resolved crosslinking mass spectrometry to map dynamic protein interactions, and advanced metabolomic profiling to delineate real-time functional consequences of respirasome remodeling