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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: D930N
cDNA Position: 2788 g→a (exon 18)
Disease Genetics Frequency Reference
Alpers Infantile Alpers w/ bilateral lesions of thalami. Hepatocerebral MDS patient, Found in trans w/ W748S. (Spinazzola et al., 2009)
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