Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.T2751_I2752delFs
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ATM

NM_000051.4:p.T2751_I2752delFs

Associated Papers

Recurrent genetic variants and prioritization of variants of uncertain clinical significance associated with hereditary breast and ovarian cancer in families from the Region of Murcia.

Rosado-Jiménez L et al.

Advances in Laboratory Medicine, 2023

Implementation of massive sequencing in the genetic diagnosis of hereditary cancer syndromes: diagnostic performance in the Hereditary Cancer Programme of the Valencia Community (FamCan-NGS).

Ramírez-Calvo M et al.

Hereditary Cancer in Clinical Practice, 2019

Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene.

Tavera-Tapia A et al.

Breast Cancer Research and Treatment, 2017

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

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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."