Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.W412Splc
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ATM

NM_000051.4:p.W412Splc

Associated Papers

Spectrum of germline pathogenic variants in Brazilian hereditary breast/ovarian cancer cases.

Faria JP et al.

Breast Cancer Research and Treatment, 2024

Genetic landscape of homologous recombination repair genes in early-onset/familial prostate cancer patients.

Paulo P et al.

Genes, Chromosomes & Cancer, 2023

Combined tumor genomic profiling and exome sequencing in a breast cancer family implicates ATM in tumorigenesis: A proof of principle study.

Bubien V et al.

Genes, Chromosomes & Cancer, 2017

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."