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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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Other shared risks include possible pancreatitis, gallbladder disease and theoretical concerns about medullary thyroid carcinoma, based on preclinical models 9

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& Seinfeld, J

It acts from a lack of equilibrium between two neurotransmitters in the basal ganglia: dopamine (inhibitory) and acetylcholine (excitatory)