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All inquiries, additions to the list, and comments should be made to Bill Copeland.
Amino Acid Substitution: H569Q
cDNA Position: 1707 c→(a or g) (exon 9)
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Disease | Genetics | Frequency | Reference |
Hepatocerebral | Homozygous | (Ashley et al., 2008) and a correction in (Ashley et al., 2009) PubMed |