Varaico: Literature-Extracted Genetic Variants

Gene:NLRP3
Variant:p.N670K
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NLRP3

NM_001243133.2:p.N670K

Associated Papers

Bilateral Optic Disc Swelling as a Plausible Common Ocular Sign of Autoinflammatory Diseases: Report of Three Patients with Blau Syndrome or Cryopyrin-Associated Periodic Syndrome.

Matsuo T et al.

Life (basel, Switzerland), 2021

Autoinflammatory disease with focus on NOD2-associated disease in the era of genomic medicine.

Yao Q et al.

Autoimmunity, 2019

Dysregulation of innate immunity: hereditary periodic fever syndromes.

Bodar EJ et al.

British Journal of Haematology, 2009

Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis.

Okafuji I et al.

Arthritis and Rheumatism, 2009

Disease-associated mutations in CIAS1 induce cathepsin B-dependent rapid cell death of human THP-1 monocytic cells.

Fujisawa A et al.

Blood, 2007

[Clinical features of Blau syndrome and early-onset sarcoidosis and associating CARD15/NOD2 gene mutations].

Kanazawa N

Nihon Rinsho Men'eki Gakkai Kaishi = Japanese Journal of Clinical Immunology, 2007

Pediatric granulomatous arthritis: an international registry.

Rosé CD et al.

Arthritis and Rheumatism, 2006

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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."