Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.A247_V248insFs
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TREX1

NM_033629.6:p.A247_V248insFs

Associated Papers

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

Retinal Vasculopathy With Cerebral Leukodystrophy: Clinicopathologic Features of an Autopsied Patient With a Heterozygous TREX 1 Mutation.

Saito R et al.

Journal of Neuropathology and Experimental Neurology, 2019

New roles for the major human 3'-5' exonuclease TREX1 in human disease.

Kavanagh D et al.

Cell Cycle (georgetown, Tex.), 2008

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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."