Varaico: Literature-Extracted Genetic Variants

Gene:UBA1
Variant:p.N39_G40Splc
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UBA1

NM_003334.4:p.N39_G40Splc

Associated Papers

Mapping VEXAS-associated and rare UBA1 variants in the United Kingdom: Insights from patient cohorts and the general population.

Martinez Rodriguez A et al.

British Journal of Haematology, 2026

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

Wadsworth PA et al.

American Journal of Clinical Pathology, 2025

VEXAS syndrome.

Nakajima H et al.

International Journal of Hematology, 2025

Clonal hematopoiesis meets an autoinflammatory disease: the new paradigm of VEXAS syndrome.

Fiumara M et al.

Expert Review of Hematology, 2025

VEXAS syndrome: A newly identified X-Linked hematoinflammatory disorder - A comprehensive overview of its genetic, molecular, inflammatory, and clinical landscape.

Singh A et al.

Journal of Autoimmunity, 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

Allogenic haematopoietic stem cell transplantation in VEXAS: A review of 33 patients.

Ali SB et al.

Clinical Rheumatology, 2024

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

VEXAS syndrome: a Swiss national retrospective cohort study.

Wolff L et al.

Swiss Medical Weekly, 2024

VEXAS syndrome: A review of cutaneous findings and treatments in an emerging autoinflammatory disease.

Saad AJ et al.

Experimental Dermatology, 2024

A novel XNA-based Luminex assay to detect UBA1 somatic mutations associated with VEXAS syndrome.

Ma Y et al.

Practical Laboratory Medicine, 2024

VEXAS syndrome: Clinical, hematologic features and a practical approach to diagnosis and management.

Koster MJ et al.

American Journal of Hematology, 2024

Dynamic monitoring of UBA1 somatic mutations in patients with relapsing polychondritis.

Duan S et al.

Orphanet Journal of Rare Diseases, 2024

VEXAS syndrome: Clinical manifestations, diagnosis, and treatment.

Loeza-Uribe MP et al.

Reumatologia Clinica, 2024

VEXAS Syndrome-Review.

Zhang Y et al.

Global Medical Genetics, 2023

VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic).

Varadarajan A et al.

Qjm : Monthly Journal of the Association of Physicians, 2023

VEXAS Syndrome: A Novelty in MDS Landscape.

Templé M et al.

Diagnostics (basel, Switzerland), 2022

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