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: L623W cDNA Position: 1868 t→g (exon 10)
Disease	Genetics	Frequency	Reference
Hypoketotic, hypyoglycaemial, and liver dysfunction	Compound heterozygote w/ K755E	Not found in 200 healthy controls	(Bortot, et al., 2009) PubMed
Hepatic disease	Found as heterozygous in trans with K755E with hepatic disease with neonatal onset and a dead sibling who carried the same mutations.		(Blazquez-Bermejo et al., 2019) PubMed