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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: S64L
cDNA Position: 191 c→t (exon 2)
Disease Genetics Frequency Reference
Charcot-Marie-Tooth Found in cis with R232H in ar Charcot-Marie-Tooth 30.6% of control population (90/294 control alleles) (Harrower et al, 2008)
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