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PAGln, a gut microbiota-derived phenylalanine metabolite, is one of the selected metabolites which is elevated in cardiometabolic disease, including chronic kidney disease and heart failure 10
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Patients with whole gene deletion present with a very large neurofibroma burden, more severe cognitive impairment, large hands and feet, dysmorphic facial features, and have a higher lifetime risk of developing malignant peripheral nerve sheath tumors (MPNST) 27 , 28
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