Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Search Results
2 results
Filters applied: . Clear all
Page 1
Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants.
Genetics. 2023 Aug 9;224(4):iyad115. doi: 10.1093/genetics/iyad115.
Genetics. 2023.
PMID: 37348055
Finally, we test if this effect may be relevant for autism risk using families from the Simons Simplex Collection, but find that splicing of pathogenic alleles has a penetrance reducing effect here as well. ...
Finally, we test if this effect may be relevant for autism risk using families from the Simons Simplex Collection, but find that spli …
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.
bioRxiv [Preprint]. 2023 Jan 31:2023.01.31.526505. doi: 10.1101/2023.01.31.526505.
bioRxiv. 2023.
PMID: 36778406
Free PMC article.
Updated.
Preprint.
Finally, we test if this effect may be relevant for autism risk using families from the Simons Simplex Collection, but find that splicing of pathogenic alleles has a penetrance reducing effect here as well. ...
Finally, we test if this effect may be relevant for autism risk using families from the Simons Simplex Collection, but find that spli …
Item in Clipboard
Cite
Cite