Article

Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible<i>SPINK1</i>coding variants

2023-11-14

Abstract excerpt

<h4>Background</h4> Single-nucleotide variants (SNVs) within gene coding sequences can significantly impact pre-mRNA splicing, bearing profound implications for pathogenic mechanisms and precision medicine. However, reliable splicing analysis often faces practical limitations, especially when the relevant tissues are challenging to access. While in silico predictions are valuable, they alone do not meet clinical c...

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Literature Corpus work: 43745e31-8ba7-589a-8ec0-ccf3d619817f
DOI: 10.1101/2023.11.14.23298498

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