Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.R521fs
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ATM

NM_000051.4:p.R521fs

Associated Papers

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

A whole-exome case-control association study to characterize the contribution of rare coding variation to pancreatic cancer risk.

Yu Y et al.

Hgg Advances, 2022

35047863 (PubMed )
Supplement: mmc1.pdf

Rare germline variants in ATM are associated with chronic lymphocytic leukemia.

Tiao G et al.

Leukemia, 2017

28652578 (PubMed )
Supplement: NIHMS881987-supplement-1.docx

Prevalence of deleterious ATM germline mutations in gastric cancer patients.

Huang DS et al.

Oncotarget, 2015

Mutations driving CLL and their evolution in progression and relapse.

Landau DA et al.

Nature, 2015

26466571 (PubMed )
Supplement: NIHMS715090-supplement-Supplementary_Table_10.xlsx › CCF_DP_clustering

Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies.

Nijman IJ et al.

The Journal of Allergy and Clinical Immunology, 2014

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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."