Varaico: Literature-Extracted Genetic Variants

Gene:NLRC4
Variant:p.Q657L
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NLRC4

NM_001199138.2:p.Q657L

Associated Papers

Dysregulation of inflammasomes in autoinflammatory diseases.

Hou C et al.

Joint Bone Spine, 2025

NLRC4, inflammation and colorectal cancer (Review).

Tong G et al.

International Journal of Oncology, 2024

Early-onset recurrent panniculitis as a phenotype of NLRC4-associated autoinflammatory syndrome: Characterization of pathogenicity of the p.Ser445Pro NLRC4 variant.

Gil-Lianes J et al.

The Australasian Journal of Dermatology, 2023

Immune-mediated inflammatory diseases with chronic excess of serum interleukin-18.

Miyazawa H et al.

Frontiers in Immunology, 2022

A single-center pilot study in Malaysia on the clinical utility of whole-exome sequencing for inborn errors of immunity.

Ripen AM et al.

Clinical and Experimental Immunology, 2021

NLRC4 GOF Mutations, a Challenging Diagnosis from Neonatal Age to Adulthood.

Bardet J et al.

Journal of Clinical Medicine, 2021

A Novel Mutation in the NBD Domain of NLRC4 Causes Mild Autoinflammation With Recurrent Urticaria.

Wang L et al.

Frontiers in Immunology, 2021

A novel de novo NLRC4 mutation reinforces the likely pathogenicity of specific LRR domain mutation.

Chear CT et al.

Clinical Immunology (orlando, Fla.), 2020

Novel Gene Deletion in NLRC4 Expanding the Familial Cold Inflammatory Syndrome Phenotype.

Jeskey J et al.

Allergy & Rhinology (providence, R.i.), 0

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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."