Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.G292_L293insA
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TREX1

NM_033629.6:p.G292_L293insA

Associated Papers

Genetic interrogation for sequence and copy number variants in systemic lupus erythematosus.

Yeo NK et al.

Frontiers in Genetics, 2024

Early arteriopathy in Aicardi-Goutières syndrome 5. Case report and review of literature.

Markovic I et al.

The Neuroradiology Journal, 2023

Characteristics and genetic analysis of patients suspected with early-onset systemic lupus erythematosus.

Lee WF et al.

Pediatric Rheumatology Online Journal, 2022

Case Report: Aicardi-Goutières Syndrome Caused by Novel TREX1 Variants.

Wu et al.

Frontiers in Pediatrics, 2021

Intracerebral large artery disease in Aicardi-Goutières syndrome with TREX1 mutation: a case report.

Wu CC et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 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."