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
Novel Splice Site Mutation in the PROS1 Gene in a Polish Patient with Venous Thromboembolism: c.602-2delA, Splice Acceptor Site of Exon 7.
Mrożek M et al.
Medicina (kaunas, Lithuania), 2020
PROS1 novel splice-site variant decreases protein S expression in patients from two families with thrombotic disease.
Menezes J et al.
Clinical Case Reports, 2017
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