Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants

Exonic variants present some of the strongest links between genotype and phenotype. However, these variants can have significant inter-individual pathogenicity differences, known as variable penetrance. In this study, we propose a model where genetically controlled mRNA splicing modulates the pathog...

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Detalles Bibliográficos
Autores principales: Einson, Jonah, Glinos, Dafni, Boerwinkle, Eric, Castaldi, Peter, Darbar, Dawood, de Andrade, Mariza, Ellinor, Patrick, Fornage, Myriam, Gabriel, Stacey, Germer, Soren, Gibbs, Richard, Hersh, Craig P., Johnsen, Jill, Kaplan, Robert, Konkle, Barbara A., Kooperberg, Charles, Nassir, Rami, Loos, Ruth J.F., Meyers, Deborah A, Mitchell, Braxton D., Psaty, Bruce, Vasan, Ramachandran S., Rich, Stephen S., Rienstra, Michael, Rotter, Jerome I., Saferali, Aabida, Shoemaker, M. Benjamin, Silverman, Edwin, Smith, Albert Vernon, Mohammadi, Pejman, Castel, Stephane E., Iossifov, Ivan, Lappalainen, Tuuli
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9915611/
https://www.ncbi.nlm.nih.gov/pubmed/36778406
http://dx.doi.org/10.1101/2023.01.31.526505

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