Varaico: Literature-Extracted Genetic Variants

Gene:BACH2
Variant:p.E788K
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BACH2

NM_021813.4:p.E788K

Associated Papers

Inborn errors of regulatory T-cell differentiation and function.

Oktelik FB et al.

The Journal of Allergy and Clinical Immunology, 2025

The landscape of rare genetic variants in familial Waldenström macroglobulinemia.

Pemov A et al.

Blood Neoplasia, 2024

39036705 (PubMed )
Supplement: BNEO_NEO-2023-000111-mmc4.xlsx › Supplementary_Table_4

An early-onset SLE patient with a novel paternal inherited BACH2 mutation.

Zhou L et al.

Journal of Clinical Immunology, 2023

Genomic characterization of lymphomas in patients with inborn errors of immunity.

Ye X et al.

Blood Advances, 2022

BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency.

Afzali B et al.

Nature Immunology, 2017

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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."