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
Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1.
Heimdal K et al.
Clinical Genetics, 2016
A case of delayed-onset hereditary hemorrhagic telangiectasia with a frameshift ENG mutation.
Akagawa H et al.
Neurology India, 0
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