Varaico: Literature-Extracted Genetic Variants

Gene:UNC93B1
Variant:p.E92G
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UNC93B1

NM_030930.4:p.E92G

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

UNCovering new causes of monogenic systemic lupus erythematosus.

Ellyard JI et al.

Immunology and Cell Biology, 2024

Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans.

Rael VE et al.

The Journal of Experimental Medicine, 2024

Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus and chilblain lupus.

David C et al.

The Journal of Experimental Medicine, 2024

UNC93B1 variants underlie TLR7-dependent autoimmunity.

Wolf C et al.

Science Immunology, 2024

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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."