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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: G1205A
cDNA Position: 3614 g→ c (exon 22)
Disease Genetics Frequency Reference
Heterozygous w/ Retinitis pigmentosa, hearing loss, failure to thrive (Wong et al., 2008)
PubMed
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Last Reviewed: October 17, 2024