Varaico: Literature-Extracted Genetic Variants

Gene:NLRC4
Variant:p.V341L
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NLRC4

NM_001199138.2:p.V341L

Associated Papers

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

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

Autoinflammation with Infantile Enterocolitis Associated with Recurrent Perianal Abscesses.

Siahanidou T et al.

Journal of Clinical Immunology, 2019

Rapamycin as an Adjunctive Therapy for NLRC4 Associated Macrophage Activation Syndrome.

Barsalou J et al.

Frontiers in Immunology, 2018

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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."