Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.R114L
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TREX1

NM_033629.6:p.R114L

Associated Papers

Discordant phenotype caused by TREX1 variant in siblings with Aicardi-Goutières syndrome.

Liu R et al.

Pediatric Rheumatology Online Journal, 2025

The landscape of pediatric genetic white matter disorders at a tertiary referral hospital in Upper Egypt and the report of 31 novel variants.

Noureldeen MM et al.

Italian Journal of Pediatrics, 2025

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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."