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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)
PEO, SANDO ar, Found as a homozygous mutation in PEO-SANDO Not found in 500 ethnically-matched control chromosomes (Santoro et al., 2006)
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