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In patients with advanced chronic kidney disease, an elevated TMAO level was found to be independently associated with MACE risk after adjustment for cardiovascular risk factors [32,33]

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For OCTN2, D139N is a variant potentially associated with SPCD that does localise correctly to the membrane, but does not impair transport activity in uptake assays 11

Furthermore, a splice variant of OCTN2 that results in an insertion in the ECD leads to retention of the transporter in the endoplasmic reticulum 33