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Human DNA Polymerase Gamma Mutation Database

All inquiries, additions to the list, and comments should be made to Bill Copeland.

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Amino Acid Substitution: H1110Y cDNA Position: 3328 c→t (exon 21)
Disease	Genetics	Frequency	Reference
MDS	Found in a large cohort study.		(Hikmat et al., 2020) PubMed
infantile hepatocerebral mtDNA depletion	Heterozygous, found in cis Q1236H, & in trans w/ W748S+ E1143G		(Taanman et al., 2008) PubMed

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