Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.S2812delFs
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ATM

NM_000051.4:p.S2812delFs

Associated Papers

A woman with a pleural mesothelioma and an inherited ATM mutation-a case report.

Seca M et al.

Annals of Translational Medicine, 2025

Sensitivity to asbestos is increased in patients with mesothelioma and pathogenic germline variants in BAP1 or other DNA repair genes.

Betti M et al.

Genes, Chromosomes & Cancer, 2018

Germline mutations in DNA repair genes predispose asbestos-exposed patients to malignant pleural mesothelioma.

Betti M et al.

Cancer Letters, 2017

Targeted next-generation sequencing-based sequencing of cell-free DNA in cerebrospinal fluid uncovers cancer-specific mutations in patients with brain cancer using a widely available panel.

Köpp A et al.

Neuro-oncology Advances, 0

41664825 (PubMed )
Supplement: vdaf270_supplementary_data.zip › Table_S2.xlsx › Variants_Blood_and_CSF
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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."