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Similar content being viewed by others Log in or create a free account to read this content Gain free access to this article, as well as selected content from this journal and more on nature.com or References Magoulas PL, El-Hattab AW : Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management

However, variant interpretation is complicated by factors such as membrane targeting: for instance, a serine mutation at one of the other Na + -binding residues, N210, causes a reduction in uptake, but also shows mixed localisation, 11 which may itself contribute to disease