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All inquiries, additions to the list, and comments should be made to Bill Copeland.
Amino Acid Substitution: P589L
cDNA Position: 1766 c→t (exon 10)
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Disease | Genetics | Frequency | Reference |
Alpers | Found in cis w/P587L and in trans w/W748S. | (Ashley et al., 2008) and a correction in (Ashley et al., 2009) PubMed |