Varaico: Literature-Extracted Genetic Variants

Gene:CTLA4
Variant:p.V131A
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CTLA4

NM_005214.5:p.V131A

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

Functional Relevance of CTLA4 Variants: an Upgraded Approach to Assess CTLA4-Dependent Transendocytosis by Flow Cytometry.

Rojas-Restrepo J et al.

Journal of Clinical Immunology, 2023

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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."