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All inquiries, additions to the list, and comments should be made to Bill Copeland.
Amino Acid Substitution: H1134R
cDNA Position: 3401 a→g (exon 21)
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Disease | Genetics | Frequency | Reference |
infantile hepatocerebral mtDNA depletion | Heterozygous, found in trans with Y831C | (Taanman et al., 2008) PubMed |
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MDS | Found in a large cohort study. | (Hikmat et al., 2020) PubMed |