Varaico: Literature-Extracted Genetic Variants

Gene:CTLA4
Variant:p.R75Q
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CTLA4

NM_005214.5:p.R75Q

Associated Papers

A Nationwide Study of the Delayed Diagnosis and the Clinical Manifestations of Predominantly Antibody Deficiencies and CTLA4-Mediated Immune Dysregulation Syndrome in Greece.

Kapousouzi A et al.

Medicina (kaunas, Lithuania), 2024

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

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

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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."