Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.F131_A136insFs
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TREX1

NM_033629.6:p.F131_A136insFs

Associated Papers

Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.

Akawi N et al.

Frontiers in Molecular Biosciences, 2024

39411402 (PubMed )
Supplement: Table1.XLSX › Supplemental_Table_S12

Type I interferon-mediated autoinflammation due to DNase II deficiency.

Rodero MP et al.

Nature Communications, 2017

29259162 (PubMed )
Supplement: 41467_2017_1932_MOESM1_ESM.pdf

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Crow YJ et al.

American Journal of Medical Genetics. Part A, 2015

25604658 (PubMed )
Supplement: supplement_1.docx

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."