Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.E376K
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ATM

NM_000051.4:p.E376K

Associated Papers

Exploring Co-occurring POLE Exonuclease and Non-exonuclease Domain Mutations and Their Impact on Tumor Mutagenicity.

Shah SM et al.

Cancer Research Communications, 2024

38282550 (PubMed )
Supplement: crc-23-0312-s02.xlsx › Supplemental_Figure_3_OC_data

Functional significance of a deep intronic mutation in the ATM gene and evidence for an alternative exon 28a.

Coutinho G et al.

Human Mutation, 2005

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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."