Associated Papers
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_S5
Loss-of-function variants in Kv 11.1 cardiac channels as a biomarker for SUDEP.
Soh MS et al.
Annals of Clinical and Translational Neurology, 2021
Case Report: Exome Sequencing Identified a Novel Frameshift Mutation of α-Actin 1 in a Chinese Family With Macrothrombocytopenia and Mild Bleeding.
Luo FM et al.
Frontiers in Pediatrics, 2021
Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy.
Bagnall RD et al.
Annals of Neurology, 2016
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