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All inquiries, additions to the list, and comments should be made to Bill Copeland.
Amino Acid Substitution: R3P
cDNA Position: 8 g→c (exon 2)
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Disease | Genetics | Frequency | Reference |
PEO | ar | (Van Goethem et al., 2001) reported 0 out of 229 control Individuals (<0.4%) | (Van Goethem et al., 2001) PubMed |