Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.P58_P59insG
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TREX1

NM_033629.6:p.P58_P59insG

Associated Papers

Etiologic Spectrum of Pediatric-Onset Leukodystrophies and Genetic Leukoencephalopathies: The Five-Year Experience of a Tertiary Care Center in Southern India.

Nair LS et al.

Pediatric Neurology, 2024

Aicardi-Goutieres syndrome: from patients to genes and beyond.

Chahwan C et al.

Clinical Genetics, 2012

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

Kavanagh D et al.

Cell Cycle (georgetown, Tex.), 2008

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.

Crow YJ et al.

Nature Genetics, 2006

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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."