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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: L1173fsX cDNA Position: 3518 ins gact, fs in exon 22 (exon 22)
Disease	Genetics	Frequency	Reference
Alpers	Compound with A467T	Not found in 300 control chromosomes	(Nguyen et al., 2006) PubMed

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