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SKU: 62851111580
Price: 25.82 USD
Availability: InStock
Rating: 4.7686 (23 reviews)

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SKU: 62851111580 · From usimagingnetwork.com

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Description

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