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Article

Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome

22 Apr 2023

Abstract excerpt

Abstract Hearing loss is the leading sensory deficit, affecting ~ 5% of the population. It exhibits remarkable heterogeneity across 223 genes with 6328 pathogenic missense variants, making deafness-specific expertise a prerequisite for ascribing phenotypic consequences to genetic variants. Deafness-implicated variants are curated in the Deafness Variation Database (DVD) after classification by a genetic hearing...

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PMID: 37086329
DOI: 10.1007/s00439-023-02559-9

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