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All inquiries, additions to the list, and comments should be made to Bill Copeland.
Amino Acid Substitution: R617C
cDNA Position: 1849 c→t (exon 10)
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Disease | Genetics | Frequency | Reference |
Heterozygous with muscle weakness, exercise intolerance, hearing loss, arrhythmia | (Wong et al., 2008) PubMed |