Varaico: Literature-Extracted Genetic Variants

Gene:UBA1
Variant:p.E597A
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UBA1

NM_003334.4:p.E597A

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

Distinct characteristics of VEXAS-causative UBA1 M41 and recurrent functional non-M41 mutations.

Sakuma M et al.

Leukemia, 2025

VEXAS without vacuoles: Linking genotype to phenotype.

Zhukovsky S et al.

Ejhaem, 2024

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

Koster MJ et al.

American Journal of Hematology, 2024

Novel causative variants of VEXAS in UBA1 detected through whole genome transcriptome sequencing in a large cohort of hematological malignancies.

Sakuma M et al.

Leukemia, 2023

36823397 (PubMed )
Supplement: 41375_2023_1857_MOESM3_ESM.xlsx › Supplementary_Table_3
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