Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.G1370delFs
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ATM

NM_000051.4:p.G1370delFs

Associated Papers

Exome sequencing reveals frequent deleterious germline variants in cancer susceptibility genes in women with invasive breast cancer undergoing neoadjuvant chemotherapy.

Ellingson MS et al.

Breast Cancer Research and Treatment, 2015

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

The impact of an early truncating founder ATM mutation on immunoglobulins, specific antibodies and lymphocyte populations in ataxia-telangiectasia patients and their parents.

Stray-Pedersen A et al.

Clinical and Experimental Immunology, 2004

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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."