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Rating: 4.5859000000000005 (24 reviews)

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SKU: 62851111580 · From iglepidom.org

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The air we breathe

Nutrients 15 (8), 1848

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