Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.S759G
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ATM

NM_000051.4:p.S759G

Associated Papers

Phenotypic evaluation of deep learning models for classifying germline variant pathogenicity.

Chow RD et al.

Npj Precision Oncology, 2024

39427061 (PubMed )
Supplement: 41698_2024_710_MOESM2_ESM.xlsx › S3

Universal Genetic Testing for Newly Diagnosed Invasive Breast Cancer.

Rezoug Z et al.

Jama Network Open, 2024

39226054 (PubMed )
Supplement: jamanetwopen-e2431427-s001.pdf

Identification of Genes with Rare Loss of Function Variants Associated with Aggressive Prostate Cancer and Survival.

Saunders EJ et al.

European Urology Oncology, 2024

38458890 (PubMed )
Supplement: NIHMS2085376-supplement-Supplementary_Tables.xlsx › Supp_Table_3

Rare Germline ATM Variants Influence the Development of Chronic Lymphocytic Leukemia.

Lampson BL et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2023

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_S14

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_2.xlsx › Sheet1

Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.

Bhai P et al.

Frontiers in Genetics, 2021

34326862 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_files › Supplementary_Table_S4.xlsx › Every_test

High-throughput sequencing of nodal marginal zone lymphomas identifies recurrent BRAF mutations.

Pillonel V et al.

Leukemia, 2018

29556019 (PubMed )
Supplement: 41375_2018_82_MOESM10_ESM.xlsx › .

Rare germline variants in ATM are associated with chronic lymphocytic leukemia.

Tiao G et al.

Leukemia, 2017

28652578 (PubMed )
Supplement: NIHMS881987-supplement-1.docx
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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."