Varaico: Literature-Extracted Genetic Variants

Gene:OTULIN
Variant:p.G174fs
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OTULIN

NM_138348.6:p.G174fs

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

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

Screening of OTULIN gene mutation with targeted next generation sequencing in Turkish populations and in silico analysis of these mutations.

Gezgin Y et al.

Molecular Biology Reports, 2022

Auto-inflammation in a Patient with a Novel Homozygous OTULIN Mutation.

Nabavi M et al.

Journal of Clinical Immunology, 2019

Linear ubiquitin chain-binding domains.

Fennell LM et al.

The Febs Journal, 2018

An Update on Autoinflammatory Diseases: Relopathies.

Steiner A et al.

Current Rheumatology Reports, 2018

Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease.

Zhou Q et al.

Proceedings of the National Academy of Sciences of the United States of America, 2016

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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."