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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: E1136K cDNA Position: 3406 g→a (exon 21)
Disease	Genetics	Frequency	Reference
infantile hepatocerebral mtDNA depletion	Heterozygous, found T251I+P587L		(Taanman et al., 2008) PubMed
	Reference # 56047213		PubMed
MDS	Found in a large cohort study.		(Hikmat et al., 2020) PubMed

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Last Reviewed: December 05, 2024