Varaico: Literature-Extracted Genetic Variants

Gene:TLR3
Variant:p.E746*
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TLR3

NM_003265.3:p.E746*

Associated Papers

"In silico analysis of human TLR3 missense single nucleotide polymorphisms and their potential association with cancer".

Agarwal M et al.

Scientific Reports, 2025

Inborn Errors of Immunity Predisposing to Herpes Simplex Virus Infections of the Central Nervous System.

Skouboe MK et al.

Pathogens (basel, Switzerland), 2023

Genetic adaptation to pathogens and increased risk of inflammatory disorders in post-Neolithic Europe.

Kerner G et al.

Cell Genomics, 2023

Life-Threatening Enterovirus 71 Encephalitis in Unrelated Children with Autosomal Dominant TLR3 Deficiency.

Kuo CY et al.

Journal of Clinical Immunology, 2022

Inborn errors of TLR3- or MDA5-dependent type I IFN immunity in children with enterovirus rhombencephalitis.

Chen J et al.

The Journal of Experimental Medicine, 2021

The role of host genetics in susceptibility to severe viral infections in humans and insights into host genetics of severe COVID-19: A systematic review.

Elhabyan A et al.

Virus Research, 2020

Heterozygous TLR3 Mutation in Patients with Hantavirus Encephalitis.

Partanen T et al.

Journal of Clinical Immunology, 2020

Severe influenza pneumonitis in children with inherited TLR3 deficiency.

Lim HK et al.

The Journal of Experimental Medicine, 2019

Autosomal Recessive Cardiomyopathy Presenting as Acute Myocarditis.

Belkaya S et al.

Journal of the American College of Cardiology, 2017

Mutations in the TLR3 signaling pathway and beyond in adult patients with herpes simplex encephalitis.

Mørk N et al.

Genes and Immunity, 2015

TLR3 deficiency in herpes simplex encephalitis: high allelic heterogeneity and recurrence risk.

Lim HK et al.

Neurology, 2014

Human primary immunodeficiencies causing defects in innate immunity.

Wong T et al.

Current Opinion in Allergy and Clinical Immunology, 2013

Herpes simplex virus encephalitis in a patient with complete TLR3 deficiency: TLR3 is otherwise redundant in protective immunity.

Guo Y et al.

The Journal of Experimental Medicine, 2011

Induced pluripotent stem cells: a novel frontier in the study of human primary immunodeficiencies.

Pessach IM et al.

The Journal of Allergy and Clinical Immunology, 2011

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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."