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
Considerations for clinical curation, classification, and reporting of low-penetrance and low effect size variants associated with disease risk.
Senol-Cosar O et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
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