Varaico: Literature-Extracted Genetic Variants

Gene:UBA1
Variant:p.N39_G40Splc
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UBA1

NM_003334.4:p.N39_G40Splc

Associated Papers

Clinical Manifestations of VEXAS Syndrome Across a Broad Spectrum of UBA1 Mutation Burden.

Anderson M et al.

Arthritis & Rheumatology (hoboken, N.j.), 2026

Characterizing VEXAS syndrome in women: Findings from an international multicenter study.

Bourguiba R et al.

Journal of Internal Medicine, 2025

Rapid clinical deployment of UBA1 testing in patients with VEXAS syndrome.

Wadsworth PA et al.

American Journal of Clinical Pathology, 2025

Efficacy and safety of conventional disease-modifying antirheumatic drugs in VEXAS syndrome: real-world data from the international AIDA network.

Vitale A et al.

Frontiers in Pharmacology, 2025

Promise of Jak Inhibition in the Management of VEXAS, Case Report with Review of the Literature.

Alnahas Z et al.

Open Access Rheumatology : Research and Reviews, 2025

VEXAS syndrome in rheumatology practice: features from a multicenter cohort in north-east Italy.

Bindoli S et al.

Frontiers in Immunology, 2025

Clinical characteristics, disease trajectories and management of vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome: a systematic review.

Kouranloo K et al.

Rheumatology International, 2024

Expanding the VEXAS diagnostic workup: the role of peripheral blood cytological analysis.

Baggio C et al.

Frontiers in Immunology, 2024

VEXAS-Syndrome, a newly described autoinflammatory systemic disease with dermatologic manifestations.

Baur V et al.

Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 2023

Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population.

Beck DB et al.

Jama, 2023

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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."