Comprehensive analysis of the EFNB1 gene c.451G>A(p.Gly151Ser) mutation: structural, functional, and pathogenicity insights through in silico analysis
This study highlights the potential pathogenicity of the c.451G > A variant and underscores the need for further research into EFNB1-associated disorders.
Authors
- Kai Fan (ORCID: https://orcid.org/0000-0002-3257-0820)
- Tao Wei
- Qianfei Huang
- Shi Shu (ORCID: https://orcid.org/0000-0002-0092-2465)
- J.S. Bao (ORCID: https://orcid.org/0009-0003-4378-7026)
- Jiale Chen (ORCID: https://orcid.org/0009-0005-3959-6416)
- Xiufang Yang
Institutions
- South China Agricultural University (CN)
- Guangdong Medical College (CN)
- Zhongshan People's Hospital (CN)
- Shenzhen Nanshan Center for Chronic Disease Control (CN)
Publication Details
- Journal
- Computers in Biology and Medicine
- Published
- 2025-08-14
- DOI
- https://doi.org/10.1016/j.compbiomed.2025.110906
- Citations
- 1
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 1.82