Varaico: Literature-Extracted Genetic Variants

Gene:TLR7
Variant:p.L528I
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TLR7

NM_016562.4:p.L528I

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

From Rare to Common: Genetic Insights into TLR7 Variants in a Multicentric Spanish Study on COVID-19 Severity.

Antolí A et al.

Journal of Clinical Immunology, 2025

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

Zeng Y et al.

Annals of the Rheumatic Diseases, 2025

Refractory Autoimmune Thrombocytopenia in an Infant with a De Novo TLR7 Gain-of-Function Variant.

Menon S et al.

Journal of Clinical Immunology, 2024

Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease.

David C et al.

Journal of Clinical 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."