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7,8,9,10,11,12,13,14,15 Pathogenic TNXB variants (splice site variants or variants introducing premature stop codon) usually lead to nonsense-mediated decay of the mutant RNA

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In the duodenum, pancreatic enzymes degrade the R-protein-B12 complexes, freeing B12 to bind with intrinsic factor (IF) , a glycoprotein produced by gastric parietal cells in the stomach lining