Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.Q2177*
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ATM

NM_000051.4:p.Q2177*

Associated Papers

Diagnostic and prognostic genomic aberrations in upper tract urothelial carcinoma can be identified in focal barbotage samples.

Axelsson TA et al.

Bju International, 2025

39654327 (PubMed )
Supplement: BJU-135-792-s001.xlsx › Sheet1

Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.

Yuen J et al.

European Journal of Human Genetics : Ejhg, 2025

39843919 (PubMed )
Supplement: 41431_2025_1785_MOESM4_ESM.pdf

Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.

He J et al.

Frontiers in Genetics, 2024

38948361 (PubMed )
Supplement: Table1.XLSX › Sheet1

A framework for individualized splice-switching oligonucleotide therapy.

Kim J et al.

Nature, 2023

37438524 (PubMed )
Supplement: 41586_2023_6277_MOESM4_ESM.xlsx › S_Table_1

Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.

Kar SP et al.

Nature Genetics, 2022

35835912 (PubMed )
Supplement: 41588_2022_1121_MOESM3_ESM.xlsx › ST4

Characterization of genetic predisposition to molecular subtypes of breast cancer in Brazilian patients.

Paixão D et al.

Frontiers in Oncology, 2022

Pan-cancer whole-genome analyses of metastatic solid tumours.

Priestley P et al.

Nature, 2019

31645765 (PubMed )
Supplement: 41586_2019_1689_MOESM11_ESM.xlsx › Sheet1

Prevalence and characterization of ATM germline mutations in Chinese BRCA1/2-negative breast cancer patients.

Yang Z et al.

Breast Cancer Research and Treatment, 2019

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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."