Varaico: Literature-Extracted Genetic Variants

Gene:UNC93B1
Variant:p.V117L
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UNC93B1

NM_030930.4:p.V117L

Associated Papers

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

UNCovering new causes of monogenic systemic lupus erythematosus.

Ellyard JI et al.

Immunology and Cell Biology, 2024

UNC93B1 variants promote SLE via TLR activation.

Webster H

Nature Reviews. Rheumatology, 2024

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

David C et al.

The Journal of Experimental Medicine, 2024

Genetic variants in UNC93B1 predispose to childhood-onset systemic lupus erythematosus.

Al-Azab M et al.

Nature Immunology, 2024

Two rare UNC93B1 variants contribute to childhood-onset lupus.

Unknown Author

Nature Immunology, 2024

Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.

Qin Z et al.

Frontiers in Genetics, 2020

32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_2.XLSX › patient_1
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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."