Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.Y370delFs
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ATM

NM_000051.4:p.Y370delFs

Associated Papers

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

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

Berstein JL et al.

Radiation Research, 2005

Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate.

Mitui M et al.

Human Mutation, 2003

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

Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences.

Teraoka SN et al.

American Journal of Human Genetics, 1999

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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."