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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: L83P cDNA Position: 248 t→c (exon 2)
Disease	Genetics	Frequency	Reference
Alpers	Compound heterozygous mutation with G888S in 10 yr. old		(Bao et al., 2008) PubMed
			(Wong et al., 2008) PubMed

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