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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: D1196N cDNA Position: 3586 g→a (exon 22)
Disease	Genetics	Frequency	Reference
Myopathy	In trans w/ G517V		(Wong et al., 2008) PubMed

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Last Reviewed: December 05, 2024