Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.D58Y
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ATM

NM_000051.4:p.D58Y

Associated Papers

SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.

Leman R et al.

Human Mutation, 2022

36273432 (PubMed )
Supplement: HUMU-43-2308-s002.xlsx › Feuil1

Identification of Spliceogenic Variants beyond Canonical GT-AG Splice Sites in Hereditary Cancer Genes.

Dragoš VŠ et al.

International Journal of Molecular Sciences, 2022

Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.

Reza MN et al.

Scientific Reports, 2021

34584144 (PubMed )
Supplement: 41598_2021_98547_MOESM1_ESM.zip › Supplementary_files-5-8-21 › Supplementary_file_14.xlsx › Sheet1

Rad51 paralogs and the risk of unselected breast cancer: A case-control study.

Grešner P et al.

Plos One, 2020

A field synopsis on low-penetrance variants in DNA repair genes and cancer susceptibility.

Vineis P et al.

Journal of the National Cancer Institute, 2009

Variation in the RAD51 gene and familial breast cancer.

Lose F et al.

Breast Cancer Research : Bcr, 2006

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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."