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 Soler Palacín,
Roger Colobran,
Bertrand Boisson,
ShenYing Zhang,
Anne Puel,
Qiang PanHammarström,
Qian Zhang,
David Neil Cooper,
Laurent Abel,
JeanLaurent Casanova
Publication year - 2022
Publication title -
proceedings of the national academy of sciences of the united states of america
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