Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.Q347*
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ETV6

NM_001987.5:p.Q347*

Associated Papers

Prolonged survival in EGFR exon 20 insertion mutant lung adenocarcinoma: case report of sequential osimertinib and furmonertinib with research trend analysis.

Lu Y et al.

Frontiers in Medicine, 2025

RNA-seq-based miRNA signature as an independent predictor of relapse in pediatric B-cell acute lymphoblastic leukemia.

Kubota H et al.

Blood Advances, 2024

38127276 (PubMed )
Supplement: BLOODA_ADV-2023-011583-mmc1.xlsx › Sup.9

Functional consequences of somatic mutations in cancer using protein pocket-based prioritization approach.

Vuong H et al.

Genome Medicine, 2014

25360158 (PubMed )
Supplement: 13073_2014_81_MOESM1_ESM.xlsx › Table_S1

Association of CYP2D6 and CYP2C19 polymorphisms and disease-free survival of Thai post-menopausal breast cancer patients who received adjuvant tamoxifen.

Chamnanphon M et al.

Pharmacogenomics and Personalized Medicine, 2013

Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart.

Rake JP et al.

European Journal of Pediatrics, 2000

Structure-function analysis of human glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a.

Lei KJ et al.

The Journal of Biological Chemistry, 1995

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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."