Varaico: Literature-Extracted Genetic Variants

Gene:UBA1
Variant:p.G40A
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UBA1

NM_003334.4:p.G40A

Associated Papers

Periorbital oedema, trismus, myalgia as muscular manifestations of VEXAS syndrome: a case report and narrative literature review.

Archambeaud A et al.

Rheumatology (oxford, England), 2026

VEXAS syndrome and immune-mediated rheumatic diseases: overlaps in clinical features and mechanisms.

Kaul A et al.

The Lancet. Rheumatology, 2025

VEXAS syndrome.

Nakajima H et al.

International Journal of Hematology, 2025

VEXAS: A review of current understandings and emerging treatment strategies.

Holden R et al.

Frontiers in Immunology, 2025

VEXAS syndrome: a new paradigm for adult-onset monogenic autoinflammatory diseases.

Vitale A et al.

Internal and Emergency Medicine, 2023

An update on VEXAS syndrome.

Al-Hakim A et al.

Expert Review of Clinical Immunology, 2023

Novel genetic mutation in myositis-variant of VEXAS syndrome.

Topilow JS et al.

Rheumatology (oxford, England), 2022

Translation of cytoplasmic UBA1 contributes to VEXAS syndrome pathogenesis.

Ferrada MA et al.

Blood, 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."