| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 10759951 | Biochemical and Biophysical Research Communications | 2013 | 4 Pages |
Abstract
⺠We detected a novel synonymous variant (c.1803G>A, heterozygote) in SLC4A26. ⺠This sSNP affecting vestibulocochlear organs through altering splicing accuracy. ⺠We confirmed the novel sSNP causing complete exon 16 skipping in the SLC26A4 gene. ⺠sSNPs must be consider as pathogenic mutations before ignored as silent mutations.
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Authors
Yoonjung Kim, Hui Ram Kim, Juwon Kim, Joong-Wook Shin, Hong-Joon Park, Jae Young Choi, Un-Kyung Kim, Kyung-A Lee,