Varaico: Literature-Extracted Genetic Variants

Gene:NLRP12
Variant:p.W408*
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NLRP12

NM_144687.4:p.W408*

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

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

Hemophagocytic lymphohistiocytosis in an adolescent with NLRP12-related autoinflammatory disorder-A case report.

Hormigo I et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2023

Rare mutations in NLRP3 and NLRP12 associated with familial cold autoinflammatory syndrome: two Chinese pedigrees.

Chen S et al.

Clinical Rheumatology, 2022

NLRP12 gene mutations and auto-inflammatory diseases: ever-changing evidence.

Del Porto F et al.

Rheumatology (oxford, England), 2020

C3 glomerulopathy in NLRP12-related autoinflammatory disorder: case-based review.

Başaran Ö et al.

Rheumatology International, 2018

NLRP12 autoinflammatory disease: a Chinese case series and literature review.

Shen M et al.

Clinical Rheumatology, 2017

Clinical Overlapping in Autoinflammatory Diseases: The Role of Gene Duplication.

Galozzi P et al.

Frontiers in Immunology, 2017

Identification of a Novel NLRP12 Nonsense Mutation (Trp408X) in the Extremely Rare Disease FCAS by Exome Sequencing.

Xia X et al.

Plos One, 2016

Genetic profiling of autoinflammatory disorders in patients with periodic fever: a prospective study.

De Pieri C et al.

Pediatric Rheumatology Online Journal, 2015

[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."