Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.T554delFs
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ATM

NM_000051.4:p.T554delFs

Associated Papers

Somatic loss of ATM is a late event in pancreatic tumorigenesis.

Paranal RM et al.

The Journal of Pathology, 2023

ATM in breast and brain tumors: a comprehensive review.

Estiar MA et al.

Cancer Biology & Medicine, 2018

Telangiectasias in Ataxia Telangiectasia: Clinical significance, role of ATM deficiency and potential pathophysiological mechanisms.

Schoenaker MHD et al.

European Journal of Medical Genetics, 2018

Ataxia-telangiectasia: Immunodeficiency and survival.

van Os NJH et al.

Clinical Immunology (orlando, Fla.), 2017

Neuropathology in classical and variant ataxia-telangiectasia.

Verhagen MM et al.

Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2012

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

The spectrum of ATM missense variants and their contribution to contralateral breast cancer.

Broeks A et al.

Breast Cancer Research and Treatment, 2008

ATM-heterozygous germline mutations contribute to breast cancer-susceptibility.

Broeks A et al.

American Journal of Human Genetics, 2000

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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."