Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.L229L
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ATM

NM_000051.4:p.L229L

Associated Papers

Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.

Zhao B et al.

Bmc Cancer, 2024

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

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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."