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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: Q308H
cDNA Position: 924 g→c (exon 4)
Disease Genetics Frequency Reference
PEO Found in trans w/W748S Not found in 250 control individuals (Horvath et al., 2006)
PubMed
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