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Human DNA Polymerase Gamma Mutation Database

All inquiries, additions to the list, and comments should be made to Bill Copeland.

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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) PubMed

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