Introme 准确预测编码和非编码变体对基因剪接的影响 ,临床应用。
关键词: Clinical genetics Deep intronic Genomics Intronic variant Splice region Splice site Splicing Splicing regulatory element Variant interpretation
Mesh : Humans RNA Splice Sites Introns RNA Splicing Machine Learning Mutation
来 源:
DOI:10.1186/s13059-023-02936-7
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