Validating the splicing effect of rare variants in the SLC26A4 gene using minigene assay
This study identified the molecular etiology of hearing loss in two patients with EVA and elucidated the impact of rare variants on splicing, thus contributing to the mutational spectrum of pathogenic variants in the SLC26A4 gene.
Authors
- Tao Shi (ORCID: https://orcid.org/0000-0002-3820-3060)
- Long Yan (ORCID: https://orcid.org/0000-0002-9713-5950)
- Xin Ma (ORCID: https://orcid.org/0000-0003-1957-594X)
- Hongen Xu (ORCID: https://orcid.org/0000-0001-7895-0899)
- Hanjun Wang
- Yixin Zhao (ORCID: https://orcid.org/0000-0002-8663-9993)
- Xiaotao Zhao
- Chengyu Lian
- Lisheng Yu (ORCID: https://orcid.org/0009-0007-0271-3767)
Institutions
- Peking University (CN)
- Zhengzhou University (CN)
- Peking University People's Hospital (CN)
Publication Details
- Journal
- BMC Medical Genomics
- Published
- 2024-09-27
- DOI
- https://doi.org/10.1186/s12920-024-02007-1
- Citations
- 4
- Primary Topic
- RNA and protein synthesis mechanisms
- Type
- article
- Field-Weighted Citation Impact
- 0.94
Funders
- Peking University
- Peking University People's Hospital