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
Correction to: Increased unfolded protein responses caused by MED17 mutations.
Terabayashi T et al.
Neurogenetics, 2022
Increased unfolded protein responses caused by MED17 mutations.
Terabayashi T et al.
Neurogenetics, 2021
Distinct but milder phenotypes with choreiform movements in siblings with compound heterozygous mutations in the transcription preinitiation mediator complex subunit 17 (MED17).
Hirabayashi S et al.
Brain & Development, 2016
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