<i>KCNH2</i> ‐ <scp>L693P</scp> Causes Long <scp>QT</scp> Syndrome Type 2 Through <scp>hERG</scp> Channel Dysfunction: Functional Validation of a Variant of Uncertain Significance
The KCNH2-L693P mutation impairs hERG maturation and function, supporting its reclassification from variants of uncertain significance (VUS) to pathogenic and providing evidence for improved clinical management.
Authors
- Chen Qiu (ORCID: https://orcid.org/0000-0003-4389-6671)
- Hai‐Long Dai (ORCID: https://orcid.org/0000-0003-4744-818X)
- Guang Xue-feng
- Xiang‐Ting Lu
- Xi‐Fan Zheng (ORCID: https://orcid.org/0009-0005-9167-4514)
Institutions
- Kunming Medical University (CN)
- Yan'an Hospital Affiliated To Kunming Medical University (CN)
Publication Details
- Journal
- Molecular Genetics & Genomic Medicine
- Published
- 2025-11-01
- DOI
- https://doi.org/10.1002/mgg3.70155
- Primary Topic
- Cardiac electrophysiology and arrhythmias
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Kunming Medical University