Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.S308C
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TREX1

NM_033629.6:p.S308C

Associated Papers

Prevalence and impact of molecular variation in the three-prime repair exonuclease 1 TREX1 and its implications for oncology.

Shekfeh M et al.

Human Genomics, 2025

40581636 (PubMed )
Supplement: 40246_2025_785_MOESM11_ESM.xlsx › Table_S8

Customised targeted massively parallel sequencing enables more precise diagnosis of patients with epilepsy.

Atli EI et al.

Internal Medicine Journal, 2022

Identification of Novel Genetic Variants in CVID Patients With Autoimmunity, Autoinflammation, or Malignancy.

Christiansen M et al.

Frontiers in Immunology, 2019

32047491 (PubMed )
Supplement: Data_Sheet_1.pdf
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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."