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Human DNA Polymerase Gamma Mutation Database


All inquiries, additions to the list, and comments should be made to Bill Copeland.

To search for multiple exons, hold <Ctrl> while selecting multiple options.

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)
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