Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.Q2297P
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ATM

NM_000051.4:p.Q2297P

Associated Papers

Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.

Reza MN et al.

Scientific Reports, 2021

34584144 (PubMed )
Supplement: 41598_2021_98547_MOESM1_ESM.zip › Supplementary_files-5-8-21 › Supplementary_file_14.xlsx › Sheet1

Alpha fetoprotein is increasing with age in ataxia-telangiectasia.

Stray-Pedersen A et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2007

Ocular findings in Norwegian patients with ataxia-telangiectasia: a 5 year prospective cohort study.

Riise R et al.

Acta Ophthalmologica Scandinavica, 2007

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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."