Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.F239delFs
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ATM

NM_000051.4:p.F239delFs

Associated Papers

Next-generation sequencing reveals a novel pathogenic variant in the ATM gene.

Pourahmadiyan A et al.

The International Journal of Neuroscience, 2022

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

Germline ATM mutational analysis in BRCA1/BRCA2 negative hereditary breast cancer families by MALDI-TOF mass spectrometry.

Graña B et al.

Breast Cancer Research and Treatment, 2011

Variability of immunodeficiency associated with ataxia telangiectasia and clinical evolution in 12 affected patients.

Claret Teruel G et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2005

Multi-center screening of mutations in the ATM gene among women with breast cancer - the WECARE Study.

Berstein JL et al.

Radiation Research, 2005

Designing and implementing quality control for multi-center screening of mutations in the ATM gene among women with breast cancer.

Bernstein JL et al.

Human Mutation, 2003

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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."