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All inquiries, additions to the list, and comments should be made to Bill Copeland.
Amino Acid Substitution: R562Q
cDNA Position: 1685 g→a (exon 9)
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Disease | Genetics | Frequency | Reference |
PEO | sporadic | Not found in 100 DNA samples from healthy Italians | (Di Fonzo et al., 2003) PubMed |