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Estimating the proportion of nonsense variants undergoing the newly described phenomenon of manufactured splice rescue.
Eur J Hum Genet. 2024 Feb;32(2):238-242. doi: 10.1038/s41431-023-01495-6. Epub 2023 Nov 27.
Eur J Hum Genet. 2024.
PMID: 38012313
Free PMC article.
A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods.
Oh RY, AlMail A, Cheerie D, Guirguis G, Hou H, Yuki KE, Haque B, Thiruvahindrapuram B, Marshall CR, Mendoza-Londono R, Shlien A, Kyriakopoulou LG, Walker S, Dowling JJ, Wilson MD, Costain G.
Oh RY, et al. Among authors: cheerie d.
HGG Adv. 2024 Apr 24;5(3):100299. doi: 10.1016/j.xhgg.2024.100299. Online ahead of print.
HGG Adv. 2024.
PMID: 38659227
Free PMC article.
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