What's Wrong in a Jump? Prediction and Validation of Splice Site Variants.

Methods Protoc · 2021 · PMC8482176 · PMID 34564308

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may be significantno p-value reported

Since the effect of intronic variants on transcript splicing and protein synthesis may be significant, the analysis for their presence should be considered when the standard screening of coding regions and exon/intron boundaries is not conclusive. 4.

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