Article

Unique<i>SLC26A4</i>Mutation Spectrum in Mongolian Patients with Enlarged Vestibular Aqueduct: A Whole-Exome Sequencing Study

2025-02-05

Abstract excerpt

<h4>Background</h4> Enlarged vestibular aqueduct (EVA) is a common inner ear malformation that can cause sensorineural hearing loss. It is frequently associated with mutations in the SLC26A4 gene. This study aimed to investigate the genetic basis of hearing loss in Mongolian patients with EVA. <h4>Methods</h4> Whole exome sequencing was performed in 19 Mongolian patients from 15 unrelated families diagnosed with E...

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Literature Corpus work: a62bad78-cfc4-543c-9814-6c572042dfe2
DOI: 10.1101/2025.02.03.25321220

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