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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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Bibliografski detalji
Izdano u:Genes (Basel)
Glavni autori: Vona, Barbara, Rad, Aboulfazl, Reisinger, Ellen
Format: Artigo
Jezik:Inglês
Izdano: MDPI 2020
Teme:
Online pristup: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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