Minigene assay for verifying the splicing effects of the rare variants in the SLC12A2 gene at c.2930-1G>a
The c.2930-1G>A variant likely contribute to hearing loss by disrupting splicing and protein expression. Currently a Variant of Uncertain Significance (VUS), its pathogenicity is supported by these findings. Further research is needed to confirm its role, emphasizing the need for integrated genetic and clinical data in auditory disorders management.
Authors
- Cui Aimin
- Jing Wang (ORCID: https://orcid.org/0000-0002-7120-0857)
- Qingwen Zhu (ORCID: https://orcid.org/0000-0003-1224-2595)
- Lin Mengsi
Institutions
- Nantong University (CN)
- Nantong Maternity and Child Health Hospital (CN)
Publication Details
- Journal
- Acta Oto-Laryngologica
- Published
- 2025-03-14
- DOI
- https://doi.org/10.1080/00016489.2025.2475486
- Citations
- 1
- Primary Topic
- RNA and protein synthesis mechanisms
- Type
- article
- Field-Weighted Citation Impact
- 0.81