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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: L965X cDNA Position: 2894 t→g (exon 18)
Disease	Genetics	Frequency	Reference
Myoclonus epilepsy	ar, found in cis with E1143G and in trans with R627Q-Q1236H w/ liver dysfunction and encephalopathy	Not found in 250 control individuals	(Horvath et al., 2006) PubMed

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