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(a) Gene structure of POLG showing the location of the (b) c.911T>G/p.L304R, c.1399G>A/p.A467T, (c) c.3708G>T/p.Q1236H, and (d) c.3428A>G/p.E1143G substitutions. The exonuclease domain extends from amino acid residue 1 to 418. The polymerase domain extends from amino acid residue 756 to 1239. The linker region lies between amino acid residues 418 and 756.
