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Article
Open AccessExpanding ACMG variant classification guidelines into a general framework
The American College of Medical Genetics and Genomics (ACMG)-recommended five variant classification categories (pathogenic, likely pathogenic, uncertain significance, likely benign, and benign) have been wide...
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Article
Open AccessCombining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants
Single-nucleotide variants (SNVs) within gene coding sequences can significantly impact pre-mRNA splicing, bearing profound implications for pathogenic mechanisms and precision medicine. In this study, we aim ...