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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...

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Bibliographic Details
Published in:EMBO J
Main Author: Avraham, Karen B
Format: Artigo
Language:Inglês
Published: John Wiley and Sons Inc. 2016
Subjects:
Online Access: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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