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Your Environment. Your Health.

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: E895G
cDNA Position: 2684 a→g (exon 17)
Disease Genetics Frequency Reference
Myopathic MDS Found in one newborn with floppiness and 20% liver mtDNA depletion, heterozygous (Spinazzola et al., 2009)
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