Assessing Variants of Uncertain Significance Implicated in Hearing Loss Using a Comprehensive Deafness Proteome

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Hearing loss is the leading sensory deficit, affecting ~ 5% of the population. It exhibits remarkable heterogeneity across 223 genes with 6,328 pathogenic missense variants, making deafness-specific expertise a prerequisite for ascribing phenotypic consequences to genetic variants. Deafness-implicat...

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Detalles Bibliográficos
Autores principales: Tollefson, Mallory R., Gogal, Rose A., Weaver, A. Monique, Schaefer, Amanda M., Marini, Robert J., Azaiez, Hela, Kolbe, Diana L., Wang, Donghong, Weaver, Amy E., Casavant, Thomas L., Braun, Terry A., Smith, Richard J. H., Schnieders, Michael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Journal Experts 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9915777/
https://www.ncbi.nlm.nih.gov/pubmed/36778238
http://dx.doi.org/10.21203/rs.3.rs-2508462/v1
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