Varaico: Literature-Extracted Genetic Variants

Gene:NLRP3
Variant:p.G564D
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NLRP3

NM_001243133.2:p.G564D

Associated Papers

Somatic NLRP3 mosaicism in patients with "mutation-negative" CAPS: insights from a single centre UK cohort.

Melo Gomes S et al.

Frontiers in Pediatrics, 2025

Schnitzler syndrome and Schnitzler-like syndromes.

Chu CQ

Chinese Medical Journal, 2022

An updated review on phenocopies of primary immunodeficiency diseases.

Singh A et al.

Genes & Diseases, 2020

Neonatal urticaria: Could it be CAPS?

Cutts L et al.

Pediatric Dermatology, 2018

Mosaicism in autoinflammatory diseases: Cryopyrin-associated periodic syndromes (CAPS) and beyond. A systematic review.

Labrousse M et al.

Critical Reviews in Clinical Laboratory Sciences, 2018

Late-Onset Cryopyrin-Associated Periodic Syndromes Caused by Somatic NLRP3 Mosaicism-UK Single Center Experience.

Rowczenio DM et al.

Frontiers in Immunology, 2017

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."