Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly.
Bryen SJ, Joshi H, Evesson FJ, Girard C, Ghaoui R, Waddell LB, Testa AC, Cummings B, Arbuckle S, Graf N, Webster R, MacArthur DG, Laing NG, Davis MR, Lührmann R, Cooper ST.
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Am J Hum Genet. 2019 Sep 5;105(3):573-587. doi: 10.1016/j.ajhg.2019.07.013. Epub 2019 Aug 22.
Am J Hum Genet. 2019.
PMID: 31447096
Free PMC article.