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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: R193Q cDNA Position: 578 g→a (exon 2)
Disease	Genetics	Frequency	Reference
Neutral polymorphism		0.6% of 450 individuals	(GeneSNPs, 2004) PubMed
	Reference # rs3176162		PubMed

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