Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.P275fs
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TREX1

NM_033629.6:p.P275fs

Associated Papers

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

Magnetic Resonance Imaging Characteristics of Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations.

Hedderich DM et al.

Clinical Neuroradiology, 2020

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."