Varaico: Literature-Extracted Genetic Variants

Gene:CTLA4
Variant:p.M1T
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CTLA4

NM_005214.5:p.M1T

Associated Papers

Mapping variant effects on anti-tumor hallmarks of primary human T cells with base-editing screens.

Walsh ZH et al.

Nature Biotechnology, 2025

What did we learn from CTLA-4 insufficiency on the human immune system?

Mitsuiki N et al.

Immunological Reviews, 2019

Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects.

Schwab C et al.

The Journal of Allergy and Clinical Immunology, 2018

Immune deficiency and autoimmunity in patients with CTLA-4 (CD152) mutations.

Verma N et al.

Clinical and Experimental Immunology, 2017

Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations.

Schubert D et al.

Nature Medicine, 2014

Haplotypes in the CTLA4 region are associated with coeliac disease in the Irish population.

Brophy K et al.

Genes and Immunity, 2006

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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."