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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TREX1

Variant:p.N103insFs

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TREX1

NM_033629.6:p.N103insFs

hg38:chr3:48466963 A>AC

Associated Papers

TREX-1 related Aicardi-Goutières syndrome improved by Janus kinase inhibitor.

Ryckmans C et al.

American Journal of Medical Genetics. Part A, 2024

38135344 (PubMed )

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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."