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All inquiries, additions to the list, and comments should be made to Bill Copeland.
Amino Acid Substitution: R853Q
cDNA Position: 2558 g→a (exon 16)
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Disease | Genetics | Frequency | Reference |
Myocerebrohepatopathy | In trans with T251I-P587L | (Wong et al., 2008) PubMed |