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 OmbrelloPublished in: medRxiv : the preprint server for health sciences (2024)
-specific RNA-sequencing.
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