Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.Q513R
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ATM

NM_000051.4:p.Q513R

Associated Papers

Current gene panels account for nearly all homologous recombination repair-associated multiple-case breast cancer families.

Matis TS et al.

Npj Breast Cancer, 2021

A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer.

Mucaki EJ et al.

Bmc Medical Genomics, 2016

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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."