Varaico: Literature-Extracted Genetic Variants

Gene:CD80
Variant:p.L131P
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CD80

NM_005191.4:p.L131P

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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