Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.R1921Splc
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ATM

NM_000051.4:p.R1921Splc

Associated Papers

Multilocus inherited neoplasia allele syndrome (MINAS) in a Turkish cohort: molecular insights and clinical relevance for precision oncology.

Bahsi T et al.

Frontiers in Pharmacology, 2025

Multiple Myeloma Risk and Outcomes Are Associated with Pathogenic Germline Variants in DNA Repair Genes.

Thibaud S et al.

Blood Cancer Discovery, 2024

The Potential of Genetics in Identifying Women at Lower Risk of Breast Cancer.

Bolze A et al.

Jama Oncology, 2024

38153744 (PubMed )
Supplement: jamaoncol-e235468-s002.xlsx › eTable_2

The Chromosome Passenger Complex (CPC) Components and Its Associated Pathways Are Promising Candidates to Differentiate Between Normosensitive and Radiosensitive ATM-Mutated Cells.

Dietz A et al.

Biomarker Insights, 2024

Combining rare and common genetic variants improves population risk stratification for breast cancer.

Bolze A et al.

Genetics in Medicine Open, 2024

39669587 (PubMed )
Supplement: mmc1.xlsx › Table_S2

Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.

Pantaleo A et al.

Cancers, 2023

38201484 (PubMed )
Supplement: cancers-16-00056-s001.zip › Table_S3_Proof_final_version.xlsx › ATM_

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

Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.

Mian A et al.

Bjui Compass, 2023

36816149 (PubMed )
Supplement: BCO2-4-156-s001.xlsx › sTable_1

Interpreting Sequence Variation in PDAC-Predisposing Genes Using a Multi-Tier Annotation Approach Performed at the Gene, Patient, and Cohort Level.

Zimmermann MT et al.

Frontiers in Oncology, 2021

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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."