Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.S1883_T1885delFs
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ATM

NM_000051.4:p.S1883_T1885delFs

Associated Papers

Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease.

Malhotra A et al.

Hgg Advances, 2025

40195116 (PubMed )
Supplement: mmc1.xlsx › Multiple_molecular_diagnoses

Clinical genome sequencing in patients with suspected rare genetic disease in Peru.

Bazalar-Montoya J et al.

Npj Genomic Medicine, 2024

39468051 (PubMed )
Supplement: 41525_2024_434_MOESM2_ESM.xlsx › Report_Outcomes_and_Variants

Landscape of Germline Mutations in DNA Repair Genes for Breast Cancer in Latin America: Opportunities for PARP-Like Inhibitors and Immunotherapy.

Urbina-Jara LK et al.

Genes, 2019

Comprehensive Analysis of Germline Variants in Mexican Patients with Hereditary Breast and Ovarian Cancer Susceptibility.

Quezada Urban R et al.

Cancers, 2018

30262796 (PubMed )
Supplement: cancers-10-00361-s001.pdf

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."