Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.L2379V
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ATM

NM_000051.4:p.L2379V

Associated Papers

Diagnostic yield of genome sequencing in children with progressive movement disorders.

Schierbaum L et al.

Brain : a Journal of Neurology, 2026

Integrative Analysis of Germline Rare Variants in Clear and Non-clear Cell Renal Cell Carcinoma.

Han SH et al.

European Urology Open Science, 2024

38496821 (PubMed )
Supplement: mmc2.xlsx › Table_S13

The Potential of Genetics in Identifying Women at Lower Risk of Breast Cancer.

Bolze A et al.

Jama Oncology, 2024

38153744 (PubMed )
Supplement: jamaoncol-e235468-s002.xlsx › eTable_4

Ignorance is Bliss? A Case of Incidental Discovery of ATM Mutation in Prostate Cancer.

Tam A et al.

International Journal of Radiation Oncology, Biology, Physics, 2024

Integrative Analysis of Germline Rare Variants in Clear and Non-Clear Cell Renal Cell Carcinoma.

Han S et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

36712083 (PubMed )
Supplement: media-1.xlsx › eTable.12

Breast cancer risks associated with missense variants in breast cancer susceptibility genes.

Dorling L et al.

Genome Medicine, 2022

35585550 (PubMed )
Supplement: 13073_2022_1052_MOESM2_ESM.xlsx › Table_S3

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_5.xlsx › Sheet1

A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients.

Feliubadaló L et al.

Clinical Chemistry, 2021

Mutational screening of newly diagnosed multiple myeloma patients by deep targeted sequencing.

Ruiz-Heredia Y et al.

Haematologica, 2018

Targeting HER2 in colorectal cancer: The landscape of amplification and short variant mutations in ERBB2 and ERBB3.

Ross JS et al.

Cancer, 2018

29338072 (PubMed )
Supplement: CNCR-124-1358-s002.xlsx › Colon
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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."