Varaico: Literature-Extracted Genetic Variants

Gene:CTLA4
Variant:p.D153Splc
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CTLA4

NM_005214.5:p.D153Splc

Associated Papers

Novel pathogenic variants in CTLA4 and LRBA immune dysregulation: Reduced CTLA-4 expression with normal expression of co-stimulatory surface molecules.

Tromp SAM et al.

Clinical Immunology (orlando, Fla.), 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."