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Splice site and de novo mutations can cause mixed dominant negative/gain of function PLCG2 -associated immune dysregulation with cold urticaria (CU-PLAID).

Sophia R ChouAlexis C BaileyKathleen BaysacAndrew J OlerJoshua D MilnerMichael J Ombrello
Published in: medRxiv : the preprint server for health sciences (2024)
-specific RNA-sequencing.
Keyphrases
  • single cell
  • aqueous solution