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CPT1A deficiency related mutations reported in patients. (A) The CPT1A structure (from AlphaFold database) is colored by grey. The Cα atoms of the CPT1A mutations in patients are shown as red spheres. R123C, C304W, T314I, R316G, F343V, R357W, E360G, R395 (missing), A414V, D454G, G465W, P479L, L484P, Y498C, G709E, and G710E are among the missense mutations discovered in CPT1A.
