Associated Papers
Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.
Zhang P et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
37931111 (PubMed )
Supplement: pnas.2314225120.sd01.xlsx › Dataset_S1._patho_AG-gain_var
Reassessment of the NF1 variants of unknown significance found during the 20-year activity of a genetics diagnostic laboratory.
Martorana D et al.
European Journal of Medical Genetics, 2023
AG-exclusion zone revisited: Lessons to learn from 91 intronic NF1 3' splice site mutations outside the canonical AG-dinucleotides.
Wimmer K et al.
Human Mutation, 2020
32126153 (PubMed )
Supplement: HUMU-41-1145-s001.xlsx › Supp_Table_S5
Select a paper to view details