Varaico: Literature-Extracted Genetic Variants

Gene:IL1RN
Variant:p.N52_N53delFs
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IL1RN

NM_173842.3:p.N52_N53delFs

Associated Papers

Autoinflammatory Keratinization Diseases-The Concept, Pathophysiology, and Clinical Implications.

Blicharz L et al.

Clinical Reviews in Allergy & Immunology, 2023

A case report of a novel compound heterozygous mutation in a Brazilian patient with deficiency of Interleukin-1 receptor antagonist (DIRA).

Mendonça LO et al.

Pediatric Rheumatology Online Journal, 2020

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

Martorana D et al.

Frontiers in Immunology, 2017

An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist.

Aksentijevich I et al.

The New England Journal of Medicine, 2009

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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."