This dataset corresponds to a comprehensive splicing analysis of splice-site variants of the breast cancer susceptibility gene RAD51C. These variants were reported at the ClinVar database. Loss-of-fun
Lynch syndrome (LS) is an inherited autosomal dominant disorder caused by germline mutations of mismatch repair (MMR) genes, including MSH2, MSH6, PMS2, and MLH1. This study aimed to analyze the molec
Organic cation transporter 1 (OCT1, SLC22A1) is localized in the sinusoidal membrane of human hepatocytes and mediates hepatic uptake of weakly basic or cationic drugs and endogenous compounds. Common
Additional file 3: Tables S8-S11. The analysis of the upregulated exons in neural. Table S8. List of spliced domains. Table S9. List of affected edges. Table S10. Gene-level enrichment. Table S11. NEA
Disease-causing variants in ATP7A lead to two different phenotypes associated with copper deficiency; a lethal form called Menkes disease (MD), leading to early death, and a much milder form called oc
