Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.R248fs
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ATM

NM_000051.4:p.R248fs

Associated Papers

Germline pathogenic variants in DNA repair pathways: a key feature in a significant subset of translocation-associated sarcomas.

Saoud C et al.

Npj Precision Oncology, 2025

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_

Prevalence of germ-line mutations in cancer genes among pancreatic cancer patients with a positive family history.

Chaffee KG et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

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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."