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Gene Symbol SF3B1
Synonyms Hsh155 | MDS | PRP10 | PRPF10 | SAP155 | SF3b155
Gene Description SF3B1, splicing factor 3b, subunit 1, is a core member of the U2 small nuclear ribonucleoprotein complex of the spliceosome which mediates the splicing of genes involved in myelodysplastic syndrome (MDS) pathogenesis (PMID: 25510282, PMID: 26842708). Mutations in SF3B1 are frequent in MDS and have also been identified in chronic lymphocytic leukemia, melanoma, and breast cancer (PMID: 24709888, PMID: 25510282, PMID: 26842708, PMID: 32112088, PMID: 32303702, PMID: 32905346).
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