Unraveling the pathogenicity role of the novel compound heterozygous mutations of MED25 gene in a Chinese patient with BVSYS
These findings demonstrated that two mutation sites identified in the <i>MED25</i> gene in this case are pathogenic or likely pathogenic and may be associated with the clinical phenotype of the proband in this study.
Authors
- Yan Zhou (ORCID: https://orcid.org/0000-0003-1266-7817)
- Yiqun Liao (ORCID: https://orcid.org/0000-0003-2585-0688)
- Zhijun Dai (ORCID: https://orcid.org/0000-0001-5209-8626)
- Liang Zou (ORCID: https://orcid.org/0000-0001-8573-7666)
- Yulei Li
- R. Qiu
Institutions
- Hubei University of Arts and Science (CN)
- Jingchu University of Technology (CN)
- Xiangyang Central Hospital (CN)
- Hefei Infectious Disease Hospital (CN)
- Monash University (AU)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-08-20
- DOI
- https://doi.org/10.3389/fgene.2025.1654336
- Primary Topic
- RNA modifications and cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Jingchu University of Technology