Search
All inquiries, additions to the list, and comments should be made to Bill Copeland.
Amino Acid Substitution: I1079L
cDNA Position: 3235 a→c (exon 20)
|
|||
---|---|---|---|
Disease | Genetics | Frequency | Reference |
adPEO | Heterozygous Hearing loss, and ptosis | (Wong et al., 2008) PubMed |