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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TREX1

Variant:p.L304_Y305delFs

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TREX1

NM_033629.6:p.L304_Y305delFs

hg38:chr3:48467565 CTG>C

Associated Papers

Misdirected yet intact TREX1 exonuclease activity causes human cerebral and systemic small vessel disease.

McGlasson S et al.

Brain : a Journal of Neurology, 2025

40476824 (PubMed )

Supplement: awaf085_supplementary_data.pdf

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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."