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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: Q45R cDNA Position: 134 a→g (exon 2)
Disease	Genetics	Frequency	Reference
Epilepsy	Found in trans w/ D136E	<0.5% in Dutch population	(Blok and van den Bosch et al., 2009) PubMed

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