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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: I1079L
cDNA Position: 3235 a→c (exon 20)
Disease Genetics Frequency Reference
adPEO Heterozygous Hearing loss, and ptosis (Wong et al., 2008)
PubMed
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