Associated Papers
High-throughput functional mapping of variants in an arrhythmia gene, KCNE1, reveals novel biology.
Muhammad A et al.
Genome Medicine, 2024
38816749 (PubMed )
Supplement: 13073_2024_1340_MOESM3_ESM.xlsx › SpliceAI
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation.
Jones EG et al.
Journal of Visualized Experiments : Jove, 2019
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