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Journal of Medical Genetics|June 11, 2013
A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasiaEleonora Di Gregorio, Federico T Bianchi, Alfonso Schiavi, et al.
The New England Journal of Medicine|December 14, 2011
SF3B1 and other novel cancer genes in chronic lymphocytic leukemiaLili Wang, Michael S Lawrence, Youzhong Wan, et al.
Elife|February 9, 2017
Copy-number and gene dependency analysis reveals partial copy loss of wild-type SF3B1 as a novel cancer vulnerabilityBrenton R Paolella, William J Gibson, Laura M Urbanski, et al.
JCI Insight|October 5, 2018
Splicing modulation sensitizes chronic lymphocytic leukemia cells to venetoclax by remodeling mitochondrial apoptotic dependenciesElisa Ten Hacken, Rebecca Valentin, Fara Faye D Regis, et al.
American Journal of Human Genetics|July 14, 2015
THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual DisabilityRaman Kumar, Mark A Corbett, Bregje W M van Bon, et al.
Cancer Cell|February 5, 2019
A Murine Model of Chronic Lymphocytic Leukemia Based on B Cell-Restricted Expression of Sf3b1 Mutation and Atm DeletionShanye Yin, Rutendo G Gambe, Jing Sun, et al.
Cancer Cell|November 8, 2016
Transcriptomic Characterization of SF3B1 Mutation Reveals Its Pleiotropic Effects in Chronic Lymphocytic LeukemiaLili Wang, Angela N Brooks, Jean Fan, et al.
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