Varaico: Literature-Extracted Genetic Variants

Gene:CTLA4
Variant:p.R70Q
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CTLA4

NM_005214.5:p.R70Q

Associated Papers

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

Differences in CD80 and CD86 transendocytosis reveal CD86 as a key target for CTLA-4 immune regulation.

Kennedy A et al.

Nature Immunology, 2022

Tumor fraction-guided cell-free DNA profiling in metastatic solid tumor patients.

Tsui DWY et al.

Genome Medicine, 2021

34059130 (PubMed )
Supplement: 13073_2021_898_MOESM3_ESM.xlsx › SuppTable1

Cytotoxic T-Lymphocyte-Associated Protein 4 Haploinsufficiency-Associated Inflammation Can Occur Independently of T-Cell Hyperproliferation.

Le Coz C et al.

Frontiers in Immunology, 2018

30087679 (PubMed )
Supplement: Data_Sheet_1.PDF

Increased Risk for Malignancies in 131 Affected CTLA4 Mutation Carriers.

Egg D et al.

Frontiers in Immunology, 2018

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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."