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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: K755E
cDNA Position: 2263 g→a (exon 13)
Disease Genetics Frequency Reference
Hypoketotic, hypyoglycaemial, and liver dysfunction Compound heterozygote w/ L623W Not found in 200 healthy controls (Bortot, et al., 2009)
PubMed
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