Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.E2304fs
Back to variants list

ATM

NM_000051.4:p.E2304fs

Associated Papers

Association between germline pathogenic variants in cancer-predisposing genes and lymphoma risk.

Usui Y et al.

Cancer Science, 2022

36065483 (PubMed )
Supplement: CAS-113-3972-s007.pdf

Atypical Ataxia Presentation in Variant Ataxia Telangiectasia: Iranian Case-Series and Review of the Literature.

Moeini Shad T et al.

Frontiers in Immunology, 2021

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

Feasibility and utility of a panel testing for 114 cancer-associated genes in a clinical setting: A hospital-based study.

Sunami K et al.

Cancer Science, 2019

30742731 (PubMed )
Supplement: CAS-110-1480-s003.xlsx › Table_S3

Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia.

Schon K et al.

Annals of Neurology, 2019

30549301 (PubMed )
Supplement: ANA-85-170-s001.pdf

Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study.

Verhagen MM et al.

Human Mutation, 2012

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."