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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: D930N cDNA Position: 2788 g→a (exon 18)
Disease	Genetics	Frequency	Reference
Alpers	Infantile Alpers w/ bilateral lesions of thalami. Hepatocerebral MDS patient, Found in trans w/ W748S.		(Spinazzola et al., 2009) PubMed

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