Large-scale Comparative Evaluation of User-Friendly Tools for Predicting Variant-Induced Alterations of Splicing Regulatory Elements.
Human mutation（2020）
关键词
BRCA1 and MAPT,exome sequencing,functional assays,in silico predictions,increased exon skipping or inclusion,molecular diagnostics,MSH2,pseudoexons,RNA splicing,splicing regulatory elements,variant interpretation
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