Varaico: Literature-Extracted Genetic Variants

Gene:NOD2
Variant:p.L1007fs
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NOD2

NM_022162.3:p.L1007fs

Associated Papers

Monogenic disorders of immunity: Common variants are not so rare.

Béziat V et al.

Cell Genomics, 2026

Utilization of the All of Us Research Program in a study of genetics in Yao syndrome.

Wu S et al.

The Journal of Allergy and Clinical Immunology, 2025

Clinical characterization of NOD2 variants in patients with common variable immunodeficiency.

Lee ASE et al.

Clinical Immunology (orlando, Fla.), 2025

Comprehensive Catalog of Variants Potentially Associated with Hidradenitis Suppurativa, Including Newly Identified Variants from a Cohort of 100 Patients.

Muret K et al.

International Journal of Molecular Sciences, 2024

39408704 (PubMed )
Supplement: ijms-25-10374-s001.zip › ijms-3168929_Supplementary_Table_S1.xlsx › Data

Hidradenitis Suppurativa-Related Autoinflammatory Syndromes: An Updated Review on the Clinics, Genetics, and Treatment of Pyoderma gangrenosum, Acne and Suppurative Hidradenitis (PASH), Pyogenic Arthritis, Pyoderma gangrenosum, Acne and Suppurative Hidradenitis (PAPASH), Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis (SAPHO), and Rarer Forms.

Maronese CA et al.

Dermatologic Clinics, 2024

Clinical phenotype, NOD2 genotypes, and treatment observations in Yao syndrome: a retrospective case series.

Williamson KA et al.

Frontiers in Immunology, 2024

Transcriptome Meta-Analysis Confirms the Hidradenitis Suppurativa Pathogenic Triad: Upregulated Inflammation, Altered Epithelial Organization, and Dysregulated Metabolic Signaling.

de Oliveira ASLE et al.

Biomolecules, 2022

Establishing the Molecular Diagnoses in a Cohort of 291 Patients With Predominantly Antibody Deficiency by Targeted Next-Generation Sequencing: Experience From a Monocentric Study.

Rojas-Restrepo J et al.

Frontiers in Immunology, 2021

Functional polymorphisms of innate immunity receptors are not risk factors for the non-SBP type bacterial infections in cirrhosis.

Dinya T et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2018

Altered pattern of tumor necrosis factor-alpha production in peripheral blood monocytes from Crohn's disease.

Loganes C et al.

World Journal of Gastroenterology, 2016

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