Associated Papers
De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.
Uguen K et al.
Nature Communications, 2026
Functional and conformational impact of cancer-associated SF3B1 mutations depends on the position and the charge of amino acid substitution.
Canbezdi C et al.
Computational and Structural Biotechnology Journal, 2021
33777335 (PubMed )
Supplement: mmc2.pdf
Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.
Temko D et al.
The Journal of Pathology, 2018
29604063 (PubMed )
Supplement: PATH-245-283-s022.xlsx › CRC.Drivers.Edited
SF3B1/Hsh155 HEAT motif mutations affect interaction with the spliceosomal ATPase Prp5, resulting in altered branch site selectivity in pre-mRNA splicing.
Tang Q et al.
Genes & Development, 2016
28087715 (PubMed )
Supplement: supp_30.24.2710_Supplemental_Material.pdf
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