Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.S194L
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TREX1

NM_033629.6:p.S194L

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

Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort.

Maggi J et al.

International Journal of Molecular Sciences, 2024

38928247 (PubMed )
Supplement: ijms-25-06540-s001.zip › Manuscript_WGS_Table_S3.pdf
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