Are all splicing mutations the same?

Research output: Contribution to journalReview articlepeer-review


In this issue of Blood, Pangallo et al compare the changes in splicing outcome in patients with rare mutations in splicing factors U2AF1 and SRSF2 to the changes due to common hotspot mutations. Many of these rare mutations phenocopy the common ones, suggesting that they have been evolutionarily selected to alter splicing and drive pathogenicity by similar mechanisms.

Original languageEnglish (US)
Pages (from-to)978-979
Number of pages2
Issue number13
StatePublished - Mar 26 2020

ASJC Scopus subject areas

  • Biochemistry
  • Immunology
  • Hematology
  • Cell Biology


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