Identification of a Novel Splice‐Site Variant in <scp> <i>CACNA1F</i> </scp> With Variable Phenotypic Expression in a Chinese Family
A novel splice-site variant in CACNA1F with familial expression variability was identified. This study increases our understanding of the genotypic and phenotypic spectrum of CACNA1F-related disorders.
Authors
- Mojiang Li
- Wanqin Xie (ORCID: https://orcid.org/0000-0003-0020-8277)
- Haiyan Zhou (ORCID: https://orcid.org/0000-0003-2741-6754)
- Ting Wen (ORCID: https://orcid.org/0009-0006-7209-5565)
- Cheng Chen (ORCID: https://orcid.org/0000-0002-0586-0646)
- Yingshu Li (ORCID: https://orcid.org/0000-0003-4903-8002)
Institutions
- Anyang Eye Hospital (CN)
- Changsha Hospital for Maternal and Child Health Care (CN)
- Liuyang City Maternal and Child Health Hospital (CN)
- Hunan Provincial Maternal and Child Health Hospital (CN)
Publication Details
- Journal
- Molecular Genetics & Genomic Medicine
- Published
- 2025-12-01
- DOI
- https://doi.org/10.1002/mgg3.70162
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Hunan Provincial Science and Technology Department