Open AccessGenome-wide detection of human variants that disrupt intronic branchpoints
Author(s) -
Peng Zhang,
Quentin Philippot,
Weicheng Ren,
WeiTe Lei,
Juan Li,
Peter D. Stenson,
Pere SolerPalacín,
Roger Colobrán,
Bertrand Boisson,
ShenYing Zhang,
Anne Puel,
Qiang PanHammarström,
Qian Zhang,
D.N. Cooper,
Laurent Abel,
JeanLaurent Casanova
Publication year - 2022
Publication title -
proceedings of the national academy of sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.011
H-Index - 771
eISSN - 1091-6490
pISSN - 0027-8424
DOI - 10.1073/pnas.2211194119
Subject(s) - genetics , biology , human genome , intron , rna splicing , genome , gene , computational biology , rna
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