Varaico: Literature-Extracted Genetic Variants

Gene:NLRC4
Variant:p.H443Q
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NLRC4

NM_001199138.2:p.H443Q

Associated Papers

Somatic Mosaic NLRC4 Variants in Autoinflammatory Diseases: Functional Characterization and Correlation of Mosaicism Levels with Disease Age of Onset and Severity.

Diab F et al.

Journal of Clinical Immunology, 2025

Three cases of autoinflammatory disease with novel NLRC4 mutations, and the first mutation reported in the CARD domain of NLRC4 associated with autoinflammatory infantile enterocolitis (AIFEC).

Asna Ashari K et al.

Pediatric Rheumatology Online Journal, 2024

NLRC4 gain-of-function variant is identified in a patient with systemic lupus erythematosus.

Wang Q et al.

Clinical Immunology (orlando, Fla.), 2023

Pathophysiology, clinical manifestations and current management of IL-1 mediated monogenic systemic autoinflammatory diseases, a literature review.

Li Y et al.

Pediatric Rheumatology Online Journal, 2022

Low-ratio somatic NLRC4 mutation causes late-onset autoinflammatory disease.

Wang J et al.

Annals of the Rheumatic Diseases, 2022

Improving Diagnosis and Clinical Management of Acquired Systemic Autoinflammatory Diseases.

Al-Hakim A et al.

Journal of Inflammation Research, 2022

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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."