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WFS1 autosomal dominant variants linked with hearing loss: update on structural analysis and cochlear implant outcome
BACKGROUND: Wolfram syndrome type 1 gene (WFS1), which encodes a transmembrane structural protein (wolframin), is essential for several biological processes, including proper inner ear function. Unlike the recessively inherited Wolfram syndrome, WFS1 heterozygous variants cause DFNA6/14/38 and wolfr...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10088283/ https://www.ncbi.nlm.nih.gov/pubmed/37041640 http://dx.doi.org/10.1186/s12920-023-01506-x |