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Lithium aluminum hydride (7.50 g, 197.63 mmol) was added into a solution of 2,2-(propane-2,2-diylbis(sulfanediyl))diacetic acid (11.10 g, 49.55 mmol) in dry tetrahydrofuran (200 mL)

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

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Whether its sciatic nerve injury, SIRVA, chronic pain, or reduced mobility, these injuries can significantly impact daily life

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