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What's hot about otoferlin
Mutations in the otoferlin (OTOF) gene lead to profound hearing loss in humans. Interestingly, a number of missense otoferlin mutations cause hearing defects but only at higher body temperature, and the reasons for this have been elusive until now. A study published in this issue of The EMBO Journal...
保存先:
| 出版年: | EMBO J |
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| 第一著者: | |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
John Wiley and Sons Inc.
2016
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5283607/ https://ncbi.nlm.nih.gov/pubmed/27821677 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.15252/embj.201695881 |
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