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Year | Number of Results |
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2013 | 1 |
2014 | 1 |
2024 | 0 |
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Experimental assessment of splicing variants using expression minigenes and comparison with in silico predictions.
Hum Mutat. 2014 Oct;35(10):1249-59. doi: 10.1002/humu.22624. Epub 2014 Sep 10.
Hum Mutat. 2014.
PMID: 25066652
Free PMC article.
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
Sosnay PR, Siklosi KR, Van Goor F, Kaniecki K, Yu H, Sharma N, Ramalho AS, Amaral MD, Dorfman R, Zielenski J, Masica DL, Karchin R, Millen L, Thomas PJ, Patrinos GP, Corey M, Lewis MH, Rommens JM, Castellani C, Penland CM, Cutting GR.
Sosnay PR, et al.
Nat Genet. 2013 Oct;45(10):1160-7. doi: 10.1038/ng.2745. Epub 2013 Aug 25.
Nat Genet. 2013.
PMID: 23974870
Free PMC article.
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