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All inquiries, additions to the list, and comments should be made to Bill Copeland.
Amino Acid Substitution: G1076V
cDNA Position: 3227 g→t (exon 20)
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Disease | Genetics | Frequency | Reference |
PEO | Sporadic / unknown | Not detected in 120 healthy control alleles | (Filosto et al., 2003) PubMed |