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10.1016/j.freeradbiomed.2021.02.034 209 XuC.YiT.TanS.XuH.HuY.MaJ.et al (2023)

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391 Recessive POLG mutations can be homozygous or compound heterozygous, with compound heterozygous mutations in trans often associated with a more severe and earlier-onset phenotype, whereas homozygous recessive mutations tend to result in a milder and later-onset presentation

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