Validating the splicing effect of rare variants in the SLC26A4 gene using minigene assay

Abstract Background The SLC26A4 gene is the second most common cause of hereditary hearing loss in human. The aim of this study was to utilize the minigene assay in order to identify pathogenic variants of SLC26A4 associated with enlarged vestibular aqueduct (EVA) and hearing loss (HL) in two patien...

Full description

Bibliographic Details
Published in:BMC Medical Genomics
Main Authors: Yixin Zhao, Yan Long, Tao Shi, Xin Ma, Chengyu Lian, Hanjun Wang, Hongen Xu, Lisheng Yu, Xiaotao Zhao
Format: Article
Language:English
Published: BMC 2024-09-01
Subjects:
Hearing loss
Enlarged vestibular aqueduct
SLC26A4 gene
Minigene
Online Access:https://doi.org/10.1186/s12920-024-02007-1

Internet

https://doi.org/10.1186/s12920-024-02007-1

Similar Items