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Description
Residual OCTN2 transporter activity carnitine levels and symptoms correlate in patients with primary carnitine deficiency
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OCTN2VT, a splice variant of OCTN2, does not transport carnitine because of the retention in the endoplasmic reticulum caused by insertion of 24 amino acids in the first extracellular loop of OCTN2
J Mol Med (Berl) 98(8):1161-1173, 2020
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