Article

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

2023-02-01

Abstract excerpt

<title>Abstract</title> <p>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-implicated variants are curated in the Deafness Variation Database (DVD) after classification by...

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Literature Corpus work: 38dffd27-dabe-5564-b63b-e8923c21d364
DOI: 10.21203/rs.3.rs-2508462/v1

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