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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: D1196N
cDNA Position: 3586 g→a (exon 22)
Disease Genetics Frequency Reference
Myopathy In trans w/ G517V (Wong et al., 2008)
PubMed
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