Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.E1592_E1593Splc
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ATM

NM_000051.4:p.E1592_E1593Splc

Associated Papers

Use of panel tests in place of single gene tests in the cancer genetics clinic.

Yorczyk A et al.

Clinical Genetics, 2015

ATM germline mutations in women with familial breast cancer and a relative with haematological malignancy.

Paglia LL et al.

Breast Cancer Research and Treatment, 2010

Characterization of ATM gene mutations in 66 ataxia telangiectasia families.

Sandoval N et al.

Human Molecular Genetics, 1999

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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."