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All inquiries, additions to the list, and comments should be made to Bill Copeland.
Amino Acid Substitution: G888S
cDNA Position: 2662 g→a (exon 17)
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Disease | Genetics | Frequency | Reference |
Alpers | Compound heterozygous with L83P in 10 yr. old | (Bao et al., 2007)
(Wong et al., 2008) PubMed |