Varaico: Literature-Extracted Genetic Variants

Gene:CTLA4
Variant:p.P137L
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CTLA4

NM_005214.5:p.P137L

Associated Papers

Demystifying the implications of disease-susceptible missense SNPs within CTLA-4 ligand binding domain and its interaction towards B7-1 protein complex: Bioinformatics-driven evidence.

Shamala V et al.

Computers in Biology and Medicine, 2026

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

Allard-Chamard H et al.

Blood Advances, 2025

Association of paediatric autoimmune cytopenia and inflammatory bowel disease suggests a common genetic origin.

Gilton M et al.

British Journal of Haematology, 2024

Chai Disease Mimicking Autoimmune Lymphoproliferative Syndrome.

Jayaraman D et al.

Indian Journal of Pediatrics, 2023

Efficacy of dupilumab for the treatment of severe skin disease in cytotoxic T lymphocyte antigen-4 insufficiency: A role of type 2 inflammation?

Arruda LK et al.

The Journal of Allergy and Clinical Immunology. Global, 2023

Computational analysis of structural and functional evaluation of the deleterious missense variants in the human CTLA4 gene.

Bouqdayr M et al.

Journal of Biomolecular Structure & Dynamics, 2023

Insilico prediction and functional analysis of nonsynonymous SNPs in human CTLA4 gene.

Irfan M et al.

Scientific Reports, 2022

Establishing the Molecular Diagnoses in a Cohort of 291 Patients With Predominantly Antibody Deficiency by Targeted Next-Generation Sequencing: Experience From a Monocentric Study.

Rojas-Restrepo J et al.

Frontiers in Immunology, 2021

Signal peptide missense variant in cancer-brake gene CTLA4 and breast cancer outcomes.

Babteen NA et al.

Gene, 2020

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

Poly (ADP-ribose) polymerase-1 (PARP-1) in Chinese patients with Graves' disease and Graves' ophthalmopathy.

Wu T et al.

Canadian Journal of Physiology and Pharmacology, 2018

Increased Risk for Malignancies in 131 Affected CTLA4 Mutation Carriers.

Egg D et al.

Frontiers in Immunology, 2018

Pitfalls of immunotherapy: lessons from a patient with CTLA-4 haploinsufficiency.

Watson LR et al.

Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2018

Clinical, Immunological, and Molecular Heterogeneity of 173 Patients With the Phenotype of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome.

Gambineri E 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

Hematopoietic stem cell transplantation for CTLA4 deficiency.

Slatter MA et al.

The Journal of Allergy and Clinical Immunology, 2016

Detection and frequency estimation of rare variants in pools of genomic DNA from large populations using mutational spectrometry.

Li-Sucholeiki XC et al.

Mutation Research, 2005

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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."