Varaico: Literature-Extracted Genetic Variants

Gene:NLRP12
Variant:p.A218T
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NLRP12

NM_144687.4:p.A218T

Associated Papers

Association of IgG4-related disease with human inborn errors of immunity.

Batani V et al.

Rheumatology (oxford, England), 2025

40569058 (PubMed )
Supplement: keaf353_supplementary_data.zip › keaf353_Supplementary_Data › rhe-24-2575-File009.pdf

Association Between Pathogenic Variants in NLRP12 and Autoinflammatory Disease: A Comprehensive Systematic Review.

Vatandoost N et al.

International Journal of Immunogenetics, 2025

NLRP12-associated autoinflammatory disease: A novel causal mutation and bioinformatics analyses.

Li Z et al.

Clinical Immunology (orlando, Fla.), 2024

NLRP12 and IL36RN mutations in a Portuguese woman with autoinflammatory syndrome.

Antunes-Duarte S et al.

Jaad Case Reports, 2022

[Relationship between the HBV core gene mutation and the cellular immunity in host].

Li J et al.

Zhonghua Gan Zang Bing Za Zhi = Zhonghua Ganzangbing Zazhi = Chinese Journal of Hepatology, 2003

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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."