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Article

Allelic hierarchy for USH2A influences auditory and visual phenotypes in South Korean patients.

Scientific reports - 19 Nov 2023

Nam Dong Woo, Song Yong Keun, Kim Jeong Hun, Lee Eun Kyoung, Park Kyu Hyung, Cha JuHyuen, Choi Byung Yoon, Lee Jun Ho, Oh Seung Ha, Jo Dong Hyun, Lee Sang-Yeon

Abstract excerpt

When medical genetic syndromes are influenced by allelic hierarchies, mutant alleles have distinct effects on clinical phenotypes. Genotype-phenotype correlations for Usher syndrome type 2 (USH2) suggest that the USH2A gene exhibits an allelic hierarchy. Here, we analyzed the phenotypes and genotypes of 16 South Korean patients with USH2A biallelic variants to investigate an allelic hierarchy from audiological...

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Identifiers

PMID: 37981655
DOI: 10.1038/s41598-023-47166-w
PMCID: PMC10658080

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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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