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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: E1136K
cDNA Position: 3406 g→a (exon 21)
Disease Genetics Frequency Reference
infantile hepatocerebral mtDNA depletion Heterozygous, found T251I+P587L (Taanman et al., 2008)
Reference # 56047213
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