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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: R417T
cDNA Position: 1250 g→c (exon 6&7 junction)
Disease Genetics Frequency Reference
Alpers Found in trans w/A467T (Ashley et al., 2008) and a correction in (Ashley et al., 2009)
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