Varaico: Literature-Extracted Genetic Variants

Gene:NLRP12
Variant:p.L558R
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NLRP12

NM_144687.4:p.L558R

Associated Papers

Novel Variant in the NLRP12 Gene: Insights From a Case Report and Systematic Review.

Bouramtane A et al.

International Journal of Immunogenetics, 2025

41261519 (PubMed )
Supplement: supplement_1.xlsx › Feuil1

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

Vatandoost N et al.

International Journal of Immunogenetics, 2025

NLRP12-associated systemic autoinflammatory diseases in children.

Wang HF

Pediatric Rheumatology Online Journal, 2022

The clinical phenotype and genotype of NLRP12-autoinflammatory disease: a Chinese case series with literature review.

Wang W et al.

World Journal of Pediatrics : Wjp, 2020

Single-Center Overview of Pediatric Monogenic Autoinflammatory Diseases in the Past Decade: A Summary and Beyond.

Wang W et al.

Frontiers in Immunology, 2020

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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."