Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.D278fs
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TREX1

NM_033629.6:p.D278fs

Associated Papers

Expanding the spectrum of genetic causes of DNA-specific exonuclease TREX1 variants in thrombotic microangiopathy.

Song ZR et al.

Kidney International, 2025

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

TREX1 Mutation Causing Autosomal Dominant Thrombotic Microangiopathy and CKD Is in Fact a Case of RVCL-S Presenting With Renal Features.

de Boer I et al.

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2019

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

Vodopivec I et al.

Annals of Neurology, 2016

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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."