Varaico: Literature-Extracted Genetic Variants

Gene:NLRP12
Variant:p.D294E
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NLRP12

NM_144687.4:p.D294E

Associated Papers

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

The role of NLRP12 in inflammatory diseases.

Huang L et al.

European Journal of Pharmacology, 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

Periodic fever syndromes and the autoinflammatory diseases (AIDs).

Marino A et al.

Journal of Translational Autoimmunity, 2020

Generalized Cytokine Increase in the Setting of a Multisystem Clinical Disorder and Carcinoid Syndrome Associated with a Novel NLRP12 Variant.

Jacob N et al.

Digestive Diseases and Sciences, 2019

Novel Deleterious Sequence Change in the NLRP12 Gene in a Child with the Autoinflammatory Syndrome, Joint Hypermobility and Cutis Laxa from India.

Ghosh K et al.

Mediterranean Journal of Hematology and Infectious Diseases, 2019

Multigene sequencing reveals heterogeneity of NLRP12-related autoinflammatory disorders.

Kostik MM et al.

Rheumatology International, 2018

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

Shen M et al.

Clinical Rheumatology, 2017

Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.

Martorana D 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

The labyrinth of autoinflammatory disorders: a snapshot on the activity of a third-level center in Italy.

Cantarini L et al.

Clinical Rheumatology, 2015

Working the endless puzzle of hereditary autoinflammatory disorders.

Caso F et al.

Modern Rheumatology, 2014

The expanding spectrum of rare monogenic autoinflammatory diseases.

Touitou I et al.

Orphanet Journal of Rare Diseases, 2013

An international registry on autoinflammatory diseases: the Eurofever experience.

Toplak N et al.

Annals of the Rheumatic Diseases, 2012

Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation.

Borghini S et al.

Arthritis and Rheumatism, 2011

[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."