Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants.
Einson J, Glinos D, Boerwinkle E, Castaldi P, Darbar D, de Andrade M, Ellinor P, Fornage M, Gabriel S, Germer S, Gibbs R, Hersh CP, Johnsen J, Kaplan R, Konkle BA, Kooperberg C, Nassir R, Loos RJF, Meyers DA, Mitchell BD, Psaty B, Vasan RS, Rich SS, Rienstra M, Rotter JI, Saferali A, Shoemaker MB, Silverman E, Smith AV; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Mohammadi P, Castel SE, Iossifov I, Lappalainen T.
Einson J, et al.
Genetics. 2023 Aug 9;224(4):iyad115. doi: 10.1093/genetics/iyad115.
Genetics. 2023.
PMID: 37348055
Free PMC article.