Search
All inquiries, additions to the list, and comments should be made to Bill Copeland.
Amino Acid Substitution: R417T
cDNA Position: 1250 g→c (exon 6&7 junction)
|
|||
---|---|---|---|
Disease | Genetics | Frequency | Reference |
Alpers | Found in trans w/A467T | (Ashley et al., 2008) and a correction in (Ashley et al., 2009) PubMed |