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Human DNA Polymerase Gamma Mutation Database

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All inquiries, additions to the list, and comments should be made to Bill Copeland.

To search for multiple exons, hold <Ctrl> while selecting multiple options.


Amino Acid Substitution: G431V
cDNA Position: 1292 g→t (exon 7)
Disease Genetics Frequency Reference
PEO Sporadic / unknown Compound with L424 CT deletion 7 out of 27patients w/sporadic PEO compared to 250 controls individuals had a mutation in POLG (Agostino et al., 2003)
PubMed
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