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Spliceosome mutations

Spliceosome mutations

Splicing of mRNA is a critical post-transcriptional mechanism regulating gene expression, which is orchestrated by spliceosome. Mutations of spliceosomal proteins can lead to abnormal splicing, including intron retention and altered splice site recognition, and ultimately disrupt transcription and genome integrity. Mutations in splicing factors, such as SRSF2U2AF1SF3B1, and SH2B3, have been found in patients with MPN.

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