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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: R417T cDNA Position: 1250 g→c (exon 6&7 junction)
Disease	Genetics	Frequency	Reference
Alpers	Found in trans w/A467T		(Ashley et al., 2008) and a correction in (Ashley et al., 2009) PubMed

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