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Human DNA Polymerase Gamma Mutation Database

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

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Amino Acid Substitution: H569Q
cDNA Position: 1707 c→(a or g) (exon 9)
Disease Genetics Frequency Reference
Hepatocerebral Homozygous (Ashley et al., 2008) and a correction in (Ashley et al., 2009)
PubMed
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