Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.
Zhang P, Chaldebas M, Ogishi M, Al Qureshah F, Ponsin K, Feng Y, Rinchai D, Milisavljevic B, Han JE, Moncada-Velez M, Keles S, Schroder B, Stenson PD, Cooper DN, Cobat A, Boisson B, Zhang Q, Boisson-Dupuis S, Abel L, Casanova JL
Proc Natl Acad Sci U S A. 2023 Nov 14;120(46):e2314225120. doi: 10.1073/pnas.2314225120. Epub 2023 Nov 6.
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