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Human DNA Polymerase Gamma Mutation Database

All inquiries, additions to the list, and comments should be made to Bill Copeland.

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Amino Acid Substitution: R562Q cDNA Position: 1685 g→a (exon 9)
Disease	Genetics	Frequency	Reference
PEO	sporadic	Not found in 100 DNA samples from healthy Italians	(Di Fonzo et al., 2003) PubMed

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