Varaico: Literature-Extracted Genetic Variants

Gene:TLR7
Variant:p.P267L
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TLR7

NM_016562.4:p.P267L

Associated Papers

Identification of a novel TLR7 gain-of-function variant that underlies systemic lupus erythematosus.

Sethumadhavan A et al.

Journal of Human Immunity, 2026

Juvenile-onset Systemic Lupus Erythematosus: Recent Advances in Pathogenesis and Treatment.

Natoli V et al.

Current Rheumatology Reports, 2025

Recent insights into the role of innate immunity in lupus.

Robinson LA et al.

Human Molecular Genetics, 2025

Somatic gain-of-function mutation in TLR7 causes early-onset systemic lupus erythematosus.

Zeng Y et al.

Annals of the Rheumatic Diseases, 2025

A de novo TLR7 gain-of-function mutation causing severe monogenic lupus in an infant.

Stremenova Spegarova J et al.

The Journal of Clinical Investigation, 2024

Functional characterization of genetic variants in the porcine TLR3 gene.

Wang L et al.

Genetics and Molecular Research : Gmr, 2014

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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."