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The Many Faces of DFNB9: Relating OTOF Variants to Hearing Impairment
The OTOF gene encodes otoferlin, a critical protein at the synapse of auditory sensory cells, the inner hair cells (IHCs). In the absence of otoferlin, signal transmission of IHCs fails due to impaired release of synaptic vesicles at the IHC synapse. Biallelic pathogenic and likely pathogenic varian...
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| Pubblicato in: | Genes (Basel) |
|---|---|
| Autori principali: | , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
MDPI
2020
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7768390/ https://ncbi.nlm.nih.gov/pubmed/33256196 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11121411 |
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