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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: S1104C
cDNA Position: 3311 c→g (exon 21)
Disease Genetics Frequency Reference
PEO Sporadic / unknown Found as compound with A467T Not found in 250 individuals (Agostino et al., 2003)
PubMed
Parkinsonism Found in trans w/G848S in a 59 y.o. male with mtDNA deletions and cerebellar ataxia (Lax et al., 2012b)
PubMed
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