Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.T270fs
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TREX1

NM_033629.6:p.T270fs

Associated Papers

TREX1 exonuclease in immunity and disease.

Shang Z et al.

International Immunology, 2025

Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations in conjunction with systemic lupus erythematosus: Missed diagnosis or misdiagnosis?

Wang X et al.

Immunity, Inflammation and Disease, 2024

Kidney-Predominant Thrombotic Microangiopathy Associated With TREX1 Frameshift Mutation.

Song ZR et al.

Kidney International Reports, 2023

High clinical heterogeneity in a Chinese pedigree of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S).

Xie N et al.

Orphanet Journal of Rare Diseases, 2021

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

Vodopivec I et al.

Annals of Neurology, 2016

TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy.

DiFrancesco JC et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 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."