Varaico: Literature-Extracted Genetic Variants

Gene:OTULIN
Variant:p.W167S
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OTULIN

NM_138348.6:p.W167S

Associated Papers

OTULIN-Related Autoinflammatory Syndrome With a Novel Mutation Treated With Tumor Necrosis Factor Inhibitor Therapy: A Rare Case Report.

Güngörer V et al.

The Journal of Rheumatology, 2025

Expanding the phenotypic and genetic spectrum of ORAS with novel homozygous variant in OTULIN gene: a case series and literature review.

AlSaleem A et al.

Pediatric Rheumatology Online Journal, 2025

OTULIN-related conditions: Report of a new case and review of the literature using GenIA.

Caballero-Oteyza A et al.

Clinical Immunology (orlando, Fla.), 2024

A de novo dominant-negative variant is associated with OTULIN-related autoinflammatory syndrome.

Takeda Y et al.

The Journal of Experimental Medicine, 2024

OTULIN-related conditions: Report of a new case and review of the literature using GenIA.

Caballero-Oteyza A et al.

Research Square, 2024

OTULIN deficiency: focus on innate immune system impairment.

Dou B et al.

Frontiers in Immunology, 2024

Compound heterozygous variants in OTULIN are associated with fulminant atypical late-onset ORAS.

Zinngrebe J et al.

Embo Molecular Medicine, 2022

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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."