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Gain-of-function mutation in ACOX1, Mitchell Syndrome: Gain-of-function mutation in peroxisomal acyl-CoA oxidase 1 (ACOX1) is a very rare heterozygous missense variant (p
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Simultaneously, it regulates the activity of matrix metalloproteinases (MMPs) and their inhibitors (TIMPs), enabling a controlled remodeling of the extracellular matrix
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