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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: N864S
cDNA Position: 2591 a→g (exon 16)
Disease Genetics Frequency Reference
PEO Found as compound with T251I-P587L Not found in 280 control chromosomes (Van Goethem et al., 2003c)
PubMed
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