Varaico: Literature-Extracted Genetic Variants

Gene:CTLA4
Variant:p.F26insFs
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CTLA4

NM_005214.5:p.F26insFs

Associated Papers

CTLA4 Alteration and Neurologic Manifestations: A New Family with Large Phenotypic Variability and Literature Review.

Genio E et al.

Genes, 2025

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

Allard-Chamard H et al.

Blood Advances, 2025

39626280 (PubMed )
Supplement: BLOODA_ADV-2024-013267-mmc1.pdf

A Family with a Novel CTLA4 Haploinsufficiency Mutation and Neurological Symptoms.

Grammatikos A et al.

Journal of Clinical Immunology, 2021

Identification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 Genes.

Stolarova L et al.

Biomedicines, 2020

33050356 (PubMed )
Supplement: biomedicines-08-00404-s001.zip › Supplementary_Tables.xlsx › TabS3

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

Increased Risk for Malignancies in 131 Affected CTLA4 Mutation Carriers.

Egg D et al.

Frontiers in Immunology, 2018

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

Verma N et al.

Clinical and Experimental Immunology, 2017

A Patient with CTLA-4 Haploinsufficiency Presenting Gastric Cancer.

Hayakawa S et al.

Journal of Clinical 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."