Varaico: Literature-Extracted Genetic Variants

Gene:CTLA4
Variant:p.C58S
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CTLA4

NM_005214.5:p.C58S

Associated Papers

Demystifying the implications of disease-susceptible missense SNPs within CTLA-4 ligand binding domain and its interaction towards B7-1 protein complex: Bioinformatics-driven evidence.

Shamala V et al.

Computers in Biology and Medicine, 2026

Investigating Biomarkers for Inborn Errors of Immunity in a Prospective Study of Patients With Autoimmune Cytopenia.

Gaál Z et al.

Pediatric Blood & Cancer, 2026

Congenital T-cell activation impairs transitional-to-follicular B-cell maturation in humans.

Allard-Chamard H et al.

Blood Advances, 2025

Computational analysis of structural and functional evaluation of the deleterious missense variants in the human CTLA4 gene.

Bouqdayr M et al.

Journal of Biomolecular Structure & Dynamics, 2023

Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients.

Grossi A et al.

Genes, 2021

Dual effect of a polymorphism in the macrophage migration inhibitory factor gene is associated with new-onset Graves disease in a Taiwanese Chinese population.

Liu YH et al.

Plos One, 2014

Macrophage migration inhibitory factor (MIF): genetic evidence for participation in early onset and early stage rheumatoid arthritis.

Llamas-Covarrubias MA et al.

Cytokine, 2013

Involvement of macrophage migration inhibitory factor gene in celiac disease susceptibility.

Núñez C et al.

Genes and Immunity, 2007

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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."