Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.A1299fs
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ATM

NM_000051.4:p.A1299fs

Associated Papers

Ataxia Telangiectasia Arising as Immunodeficiency: The Intriguing Differential Diagnosis.

Cavone F et al.

Journal of Clinical Medicine, 2023

Olaparib Monotherapy for Previously Treated Pancreatic Cancer With DNA Damage Repair Genetic Alterations Other Than Germline BRCA Variants: Findings From 2 Phase 2 Nonrandomized Clinical Trials.

Javle M et al.

Jama Oncology, 2021

Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.

Yamamoto K et al.

Elife, 2016

27304073 (PubMed )
Supplement: elife-14709-supp1.xlsx › Supplementary_Information_1A
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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."