Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.L43P
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ATM

NM_000051.4:p.L43P

Associated Papers

Evaluation of inherited germline mutations in cancer susceptibility genes among pancreatic cancer patients: a single-center study.

Tavano F et al.

Molecular Medicine (cambridge, Mass.), 2023

36717774 (PubMed )
Supplement: 10020_2023_600_MOESM1_ESM.xlsx › s1

Mutational processes shape the landscape of TP53 mutations in human cancer.

Giacomelli AO et al.

Nature Genetics, 2018

30224644 (PubMed )
Supplement: NIHMS1501645-supplement-5.xlsx › P53_Hiseq4k_cdn20170920_inF__2_

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

DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations.

Magliozzi M et al.

Disease Markers, 2006

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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."