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Conditions associated with elevated B12 levels include: Liver disease : Hepatocellular damage releases stored B12 into circulation, with levels correlating with disease severity in conditions such as cirrhosis, hepatitis, and hepatocellular carcinoma Renal impairment : Reduced kidney function decreases B12 clearance, leading to accumulation Haematological malignancies : Myeloproliferative disorders, acute leukaemia, and polycythaemia vera can elevate B12 through increased production of B12-binding proteins (transcobalamins) Solid tumours : Certain cancers, particularly those affecting the liver or gastrointestinal tract, may elevate B12 levels A specific concern relates to cyanocobalamin in patients with Leber's hereditary optic neuropathy , a rare mitochondrial disorder

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Since RNP-6 primarily regulates pre-mRNA splicing, we focused on the aberrant splicing landscape mentioned above (Supplementary Fig