Varaico: Literature-Extracted Genetic Variants

Gene:OTULIN
Variant:p.L173delFs
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OTULIN

NM_138348.6:p.L173delFs

Associated Papers

Long-term clinical course and treatment response in two patients with OTULIN-related autoinflammatory syndrome.

Unal D et al.

Rheumatology (oxford, England), 2025

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

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

Caballero-Oteyza A et al.

Research Square, 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

Met1-linked ubiquitin signalling in health and disease: inflammation, immunity, cancer, and beyond.

Jahan AS et al.

Cell Death and Differentiation, 2021

Linear ubiquitin chain-binding domains.

Fennell LM et al.

The Febs Journal, 2018

The Met1-Linked Ubiquitin Machinery: Emerging Themes of (De)regulation.

Hrdinka M et al.

Molecular Cell, 2017

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."