Varaico: Literature-Extracted Genetic Variants

Gene:LRBA
Variant:p.T1643A
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LRBA

NM_001364905.1:p.T1643A

Associated Papers

Lipopolysaccharide-responsive and beige-like anchor protein (LRBA) functional deficiency caused by biallelic LRBA missense variants characterized by Evans syndrome or colitis.

Chiang SCC et al.

The Journal of Allergy and Clinical Immunology, 2025

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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."