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All inquiries, additions to the list, and comments should be made to Bill Copeland.
Amino Acid Substitution: Q308H
cDNA Position: 924 g→c (exon 4)
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Disease | Genetics | Frequency | Reference |
PEO | Found in trans w/W748S | Not found in 250 control individuals | (Horvath et al., 2006) PubMed |