Clinical Utility of Protein Language Models in Resolution of Variants of Uncertain Significance in KCNQ1, KCNH2, and SCN5A Compared with Patch-Clamp Functional Characterization.
Circulation Genomic and Precision Medicine(2024)
Key words
AlphaMissense,Arrhythmia,artificial intelligence,Electrophysiology,ESM1b,Genetic variants,Ion channels,KCNH2,KCNQ1,SCN5A,VUS resolution
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