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January 4, 2024Journal of Clinical InvestigationOpen Access

Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndrome

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Authors

SDSelket DelafontaineKU LeuvenAIAlberto IannuzzoCentre National de la Recherche ScientifiqueTBTarin M. BigleyWashington University in St. Louis

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Cite This Study

Delafontaine et al. (2024) studied this question.

synapsesocial.com/papers/6a99ebd03f53f1c2edb4ecb1https://doi.org/10.1172/jci163604
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Also Consider

Synapse has enriched 3 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1CADD: predicting the deleteriousness of variants throughout the human genome2018 · 4,022 citations
  2. 2Augmentation of Stimulator of Interferon Genes–Induced Type I Interferon Production in COPA Syndrome2021 · 37 citations
  3. 3Homeostatic regulation of STING by retrograde membrane traffic to the ER2021 · 163 citations