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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: G763R cDNA Position: 2287 g→c (exon 14)
Disease	Genetics	Frequency	Reference
MNGIE-like	Found as a homozygous mutation in a 17 y.o. with PEO, polyneuropathy,and gastro-intestinal dysmotility		(Bereau et al., 2016) PubMed
PEO, SANDO	ar, Found as a homozygous mutation in PEO-SANDO	Not found in 500 ethnically-matched control chromosomes	(Santoro et al., 2006) PubMed

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Last Reviewed: December 05, 2024