Investigation of cryptic JAG1 splice variants as a cause of Alagille syndrome and performance evaluation of splice predictor tools

Autor: Keefer-Jacques, Ernest, Valente, Nicolette, Jacko, Anastasia M., Matwijec, Grace, Reese, Apsara, Tekriwal, Aarna, Loomes, Kathleen M., Spinner, Nancy B., Gilbert, Melissa A.
Zdroj: In Human Genetics and Genomics Advances 10 October 2024 5(4)
Databáze: ScienceDirect