Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.T249fs
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TREX1

NM_033629.6:p.T249fs

Associated Papers

Inherited C-terminal TREX1 variants disrupt homology-directed repair to cause senescence and DNA damage phenotypes in Drosophila, mice, and humans.

Chauvin SD et al.

Nature Communications, 2024

38824133 (PubMed )
Supplement: 41467_2024_49066_MOESM6_ESM.xlsx › Sheet1

Progressive macular ischemia in retinal vasculopathy with cerebral leukodystrophy.

Kuo CY et al.

European Journal of Ophthalmology, 2023

Serial magnetic resonance imaging changes of pseudotumor lesions in retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations: a case report.

Yan Y et al.

Bmc Neurology, 2021

A 44-year-old man with eye, kidney, and brain dysfunction.

Vodopivec I et al.

Annals of Neurology, 2016

Human disease phenotypes associated with mutations in TREX1.

Rice GI et al.

Journal of Clinical Immunology, 2015

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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."