Varaico: Literature-Extracted Genetic Variants

Gene:BACH2
Variant:p.L24P
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BACH2

NM_021813.4:p.L24P

Associated Papers

Inborn errors of regulatory T-cell differentiation and function.

Oktelik FB et al.

The Journal of Allergy and Clinical Immunology, 2025

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

Zhou L et al.

Journal of Clinical Immunology, 2023

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."