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All inquiries, additions to the list, and comments should be made to Bill Copeland.
Amino Acid Substitution: D930N
cDNA Position: 2788 g→a (exon 18)
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Disease | Genetics | Frequency | Reference |
Alpers | Infantile Alpers w/ bilateral lesions of thalami. Hepatocerebral MDS patient, Found in trans w/ W748S. | (Spinazzola et al., 2009) PubMed |