Varaico: Literature-Extracted Genetic Variants

Gene:TLR3
Variant:p.R488*
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TLR3

NM_003265.3:p.R488*

Associated Papers

Concomitant Ultrarare Mutations in TLR3 and CTPS2 in a Patient with Severe and Recurrent Respiratory Infections in Early Life.

Bougarn S et al.

Journal of Clinical Immunology, 2024

39312089 (PubMed )
Supplement: 10875_2024_1804_MOESM1_ESM.docx

Multiple inborn errors of type I IFN immunity in a 33-year-old male with a fatal case of COVID-19.

Saheb Sharif-Askari N et al.

Heliyon, 2024

Rare loss-of-function variants in type I IFN immunity genes are not associated with severe COVID-19.

Povysil G et al.

The Journal of Clinical Investigation, 2021

Failure to replicate the association of rare loss-of-function variants in type I IFN immunity genes with severe COVID-19.

Povysil G et al.

Medrxiv : the Preprint Server for Health Sciences, 2020

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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."