Associated Papers
SPARC: a structural pathogenicity algorithm for risk classification of hERG variants.
Chatelain FC et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2026
41443252 (PubMed )
Supplement: euaf327_supplementary_data.zip › Table-S1-V2.xlsx › Alpha_missense___REVEL
Neglected Mendelian causes of stroke in adult Chinese patients who had an ischaemic stroke or transient ischaemic attack.
Li W et al.
Stroke and Vascular Neurology, 2024
37495379 (PubMed )
Supplement: svn-2022-002158supp001.pdf
Multiplexed Assays of Variant Effect and Automated Patch-clamping Improve KCNH2-LQTS Variant Classification and Cardiac Event Risk Stratification.
O'Neill MJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
38370760 (PubMed )
Supplement: media-2.xlsx › Table_S2
Prediction of Kv11.1 potassium channel PAS-domain variants trafficking via machine learning.
Immadisetty K et al.
Journal of Molecular and Cellular Cardiology, 2023
Establishment of a Dedicated Inherited Cardiomyopathy Clinic: From Challenges to Improved Patients' Outcome.
Smith E et al.
Journal of the American Heart Association, 2022
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