Evaluation of common NLRP3 Q703K variant in pediatric patients with autoinflammatory disease: CAPS and PFAPA

Background. Gain-of-function mutations of the NLR family pyrin domain containing 3 (NLRP3) gene have been implicated in autoinflammatory diseases. The NLRP3 Q703K variant is a common variant associated with Cryopyrin-associated periodic syndromes (CAPS) and periodic fever, aphthous stomatitis...

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Bibliographic Details
Main Authors: Yasemin Kendir-Demirkol, Laura A Jenny, Ferhat Demir, Betül Sözeri
Format: Article
Language:English
Published: Hacettepe University Institute of Child Health 2023-08-01
Series:The Turkish Journal of Pediatrics
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Online Access:https://turkjpediatr.org/article/view/72
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