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Article

[Application of PCR-MALDI-TOF MS in genetic detection of non-syndromic hearing loss and genotype-audiometric phenotype analysis].

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery - 1 Jun 2026

Liu Liwen, Mei Lingyun, He Chufeng, Jiang Lu, Wu Xuewen, Liu Yalan

Abstract excerpt

Objective:This study aimed to evaluate the diagnostic efficacy, clinical feasibility, and performance of PCR-coupled Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry（PCR-MALDI-TOF MS） in screening 20 common mutations across four deafness-associated genes in patients with non-syndromic hearing loss（NSHL）. Furthermore, it investigated the correlation between specific gene mutation types...

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Source

Identifiers

PMID: 42208963
DOI: 10.13201/j.issn.2096-7993.2026.06.004

Genes

SLC26A4
GJB2
GJB3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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