A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods

Autor: Oh, Rachel Y., AlMail, Ali, Cheerie, David, Guirguis, George, Hou, Huayun, Yuki, Kyoko E., Haque, Bushra, Thiruvahindrapuram, Bhooma, Marshall, Christian R., Mendoza-Londono, Roberto, Shlien, Adam, Kyriakopoulou, Lianna G., Walker, Susan, Dowling, James J., Wilson, Michael D., Costain, Gregory
Zdroj: In Human Genetics and Genomics Advances 18 July 2024 5(3)
Databáze: ScienceDirect