Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.E2164*
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ATM

NM_000051.4:p.E2164*

Associated Papers

Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy.

Liu J et al.

Nature Genetics, 2025

40664769 (PubMed )
Supplement: 41588_2025_2250_MOESM4_ESM.xlsx › ST6

Identification of Genes with Rare Loss of Function Variants Associated with Aggressive Prostate Cancer and Survival.

Saunders EJ et al.

European Urology Oncology, 2024

38458890 (PubMed )
Supplement: NIHMS2085376-supplement-Supplementary_Tables.xlsx › Supp_Table_3

Pure high-grade papillary urothelial bladder cancer: a luminal-like subgroup with potential for targeted therapy.

Schnitzler T et al.

Cellular Oncology (dordrecht, Netherlands), 2020

32445084 (PubMed )
Supplement: 13402_2020_524_MOESM7_ESM.xlsx › ESM_7

Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia.

Schon K et al.

Annals of Neurology, 2019

30549301 (PubMed )
Supplement: ANA-85-170-s001.pdf
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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."