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Article

Functional pathogenicity of ESRRB variant of uncertain significance contributes to hearing loss (DFNB35).

Scientific reports - 11 Sept 2024

Choi Won Hoon, Cho Yeijean, Cha Ju Hyuen, Lee Dae Hee, Jeong Jong Gwan, Jung Sung Ho, Song Jae-Jin, Lee Jun Ho, Lee Sang-Yeon

Abstract excerpt

Advances in next-generation sequencing technologies have led to elucidation of sensorineural hearing loss genetics and associated clinical impacts. However, studies on the functional pathogenicity of variants of uncertain significance (VUS), despite their close association with clinical phenotypes, are lacking. Here we identified compound heterozygous variants in ESRRB transcription factor gene linked to DFNB35,...

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Identifiers

PMID: 39261511
DOI: 10.1038/s41598-024-70795-8
PMCID: PMC11390957

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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