Varaico: Literature-Extracted Genetic Variants

Gene:CTLA4
Variant:p.P136A
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CTLA4

NM_005214.5:p.P136A

Associated Papers

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

Gaál Z et al.

Pediatric Blood & Cancer, 2026

Genetics and clinical phenotypes in common variable immunodeficiency.

Cunningham-Rundles C et al.

Frontiers in Genetics, 2023

38274105 (PubMed )
Supplement: DataSheet1.PDF

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

Genetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency.

Maffucci P et al.

Frontiers in Immunology, 2016

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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."