Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.R1973Splc
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ATM

NM_000051.4:p.R1973Splc

Associated Papers

Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.

Li J et al.

Genes & Diseases, 2026

Efficacy of the ATR inhibitor ceralasertib in patients with ARID1A-deficient gynecologic and other solid tumor malignancies.

Zhu X et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2026

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

Zhao B et al.

Bmc Cancer, 2024

Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.

Southey MC et al.

Npj Breast Cancer, 2021

34887416 (PubMed )
Supplement: 41523_2021_360_MOESM1_ESM.pdf
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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."