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Article

A Genome-First Approach to Rare Variants in Dominant Postlingual Hearing Loss Genes in a Large Adult Population.

Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery - 1 Apr 2022

Ahmadmehrabi Shadi, Li Binglan, Hui Daniel, Park Joseph, Ritchie Marylyn, Rader Daniel J, Ruckenstein Michael J, Epstein Douglas J, Brant Jason

Abstract excerpt

OBJECTIVE: To investigate the importance of rare variants in adult-onset hearing loss. STUDY DESIGN: Genomic association study. SETTING: Large biobank from tertiary care center. METHODS: We investigated rare variants (minor allele frequency <5%) in 42 autosomal dominant (DFNA) postlingual hearing loss (HL) genes in 16,657 unselected individuals in the Penn Medicine Biobank. We determined the prevalence of known...

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PMID: 34281439
DOI: 10.1177/01945998211029544

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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