Functional Characterization and Pathogenicity Classification of <scp> <i>PRRT2</i> </scp> Splice Variants in <scp> <i>PRRT2</i> </scp> ‐Related Disorders
Combining in silico analyses with functional assays is essential for determining the pathogenicity of splice variants. It can help confirm the diagnosis of patients with clinically suspected PKD and other PRRT2-related disorders.
Authors
- W SUN
- Zhi‐Ying Wu (ORCID: https://orcid.org/0000-0003-2106-572X)
- Yulan Chen (ORCID: https://orcid.org/0009-0006-5006-6675)
- Jiaojiao Xu (ORCID: https://orcid.org/0000-0002-0828-3282)
- Hong‐Fu Li (ORCID: https://orcid.org/0000-0002-2203-0046)
- Dian‐Fu Chen
Institutions
- Allen Institute for Brain Science (US)
- Zhejiang Lab (CN)
- Second Affiliated Hospital of Zhejiang University (CN)
Publication Details
- Journal
- Annals of Clinical and Translational Neurology
- Published
- 2025-09-16
- DOI
- https://doi.org/10.1002/acn3.70189
- Primary Topic
- RNA modifications and cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Zhejiang University