Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.L87insFs
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TREX1

NM_033629.6:p.L87insFs

Associated Papers

Pharmacological evaluation of drug therapies in Aicardi-Goutières syndrome: insights from patient-derived neural stem cells.

Braidotti S et al.

Frontiers in Pharmacology, 2025

The prototypical interferonopathy: Aicardi-Goutières syndrome from bedside to bench.

Hofer MJ et al.

Immunological Reviews, 2024

Generation of three iPSC lines from fibroblasts of a patient with Aicardi Goutières Syndrome mutated in TREX1.

Ferraro RM et al.

Stem Cell Research, 2019

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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."