Practical challenges for functional validation of STAT1 gain of function genetic variants

NIHR BioResource-Rare Disease Consortium

Research output: Contribution to journalLetterpeer-review

Original languageEnglish
Pages (from-to)166-169
Number of pages4
JournalClinical and Experimental Immunology
Volume212
Issue number2
DOIs
StatePublished - May 2023

Keywords

  • STAT1
  • chronic mucocutaneous candidiasis
  • flow cytometry
  • gain of function
  • primary immunodeficiency
  • variants of unknown significance

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