Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.M2821del1
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ATM

NM_000051.4:p.M2821del1

Associated Papers

Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations.

Jacquemin V et al.

European Journal of Human Genetics : Ejhg, 2012

Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype.

Micol R et al.

The Journal of Allergy and Clinical Immunology, 2011

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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."