Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.R2929Splc
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ATM

NM_000051.4:p.R2929Splc

Associated Papers

Prevalence and outcomes of cancer and treatment-associated toxicities for patients with ataxia telangiectasia.

Magnarelli A et al.

The Journal of Allergy and Clinical Immunology, 2025

Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.

von Stedingk K et al.

Scientific Reports, 2021

33674644 (PubMed )
Supplement: 41598_2021_84502_MOESM2_ESM.xlsx › S10_All_Variants

Germline mutation in the TP53 gene in uveal melanoma.

Hajkova N et al.

Scientific Reports, 2018

29769598 (PubMed )
Supplement: 41598_2018_26040_MOESM2_ESM.xlsx › Supplementary_Table_S1

A new ataxia-telangiectasia mutation in an 11-year-old female.

Mortaz E et al.

Immunogenetics, 2017

Detection of ATM germline variants by the p53 mitotic centrosomal localization test in BRCA1/2-negative patients with early-onset breast cancer.

Prodosmo A et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2016

p53 centrosomal localization diagnoses ataxia-telangiectasia homozygotes and heterozygotes.

Prodosmo A et al.

The Journal of Clinical Investigation, 2013

Description and validation of high-throughput simultaneous genotyping and mutation scanning by high-resolution melting curve analysis.

Nguyen-Dumont T et al.

Human Mutation, 2009

Variants in the ATM gene associated with a reduced risk of contralateral breast cancer.

Concannon P et al.

Cancer Research, 2008

ATM alterations in childhood non-Hodgkin lymphoma.

Gumy-Pause F et al.

Cancer Genetics and Cytogenetics, 2006

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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."