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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Detalles Bibliográficos
Autores principales: Vona, Barbara, Rad, Aboulfazl, Reisinger, Ellen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7768390/
https://www.ncbi.nlm.nih.gov/pubmed/33256196
http://dx.doi.org/10.3390/genes11121411

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7768390/
https://www.ncbi.nlm.nih.gov/pubmed/33256196
http://dx.doi.org/10.3390/genes11121411

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