Genetic & Genomic MedicineHuman GenomicsPeer-reviewed
Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants
Hao Wu, Jin‐Huan Lin, Xin‐Ying Tang…·Jian‐Min Chen
The paper combines full-length gene splicing assay and SpliceAI to analyze splicing effects of SPINK1 coding variants, finding less than 2% of variants significantly impact splicing.
16 citations