SLC26A4 C.317C > A Variant: Functional Analysis and Patient‐Derived Induced Pluripotent Stem Line Development

SLC26A4 C.317C > A Variant: Functional Analysis and Patient‐Derived Induced Pluripotent Stem Line Development

ABSTRACT Background SLC26A4 is the second most common cause of hereditary hearing loss worldwide. This gene predominantly harbors pathogenic variants, including splice, nonsense, and missense. Although missense variants are relatively common, their specific effects on protein function remain unclear...

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Bibliographic Details
Main Authors: Yijing Li, Tao Sun, Sang Hu, Hongen Xu, Teng Zhang, Jinlong Liu, Shuangshuang Lu, Bing Wang, Guo Dan
Format: Article
Language:English
Published: Wiley 2025-04-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
c.317C > a
hearing loss
iPSCs
SLC26A4
Online Access:https://doi.org/10.1002/mgg3.70098
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